All variants in the ABHD3 gene

Information The variants shown are described using the NM_138340.4 transcript reference sequence.

457 entries on 5 pages. Showing entries 1 - 100.
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AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DB-ID     

dbSNP ID     

gnomAD frequency     

gnomAD homozygote count     
c.-62_-61insTCGCCCGCTCTCGCCCGCTC r.(=) p.(=) g.19284687_19284688insGAGCGGGCGAGAGCGGGCGA - rs115402165 238/27932 6/12180
c.-62_-61insTCGCCCGCTCTCGCCCGCTCTCGCCCGCTC r.(=) p.(=) g.19284687_19284688insGAGCGGGCGAGAGCGGGCGAGAGCGGGCGA - rs115402165 19/27932 3/12180
c.-62_-61insTCGCCCGCTCTCGCCCGCTCTCGCCCGCTCTCGCCCGCTC r.(=) p.(=) g.19284687_19284688insGAGCGGGCGAGAGCGGGCGAGAGCGGGCGAGAGCGGGCGA - rs115402165 5/27932 0/12180
c.-61_-52dup r.(=) p.(=) g.19284678_19284687dup - rs115402165 1737/27932 180/12180
c.-61_-52del r.(=) p.(=) g.19284678_19284687del - rs115402165 4/27932 0/12180
c.-58_-57insCCGCTCTCGCCCGCTCTCGT r.(=) p.(=) g.19284683_19284684insACGAGAGCGGGCGAGAGCGG - rs115402165 1/27932 0/12180
c.-50C>T r.(=) p.(=) g.19284676G>A - rs775145910 1/32786 0/16392
c.-44G>C r.(=) p.(=) g.19284670C>G - rs769797826 1/46996 0/23497
c.-41T>A r.(=) p.(=) g.19284667A>T - rs759569029 4/54962 0/27477
c.-40C>A r.(=) p.(=) g.19284666G>T - rs367748939 6/55292 0/27640
c.-35C>T r.(=) p.(=) g.19284661G>A - rs770728465 6/67384 0/33686
c.-33C>T r.(=) p.(=) g.19284659G>A - rs746826257 2/76704 0/38350
c.-30C>G r.(=) p.(=) g.19284656G>C - rs768930288 1/81722 0/40860
c.-22C>G r.(=) p.(=) g.19284648G>C - rs756560579 5/107078 0/53534
c.-18G>A r.(=) p.(=) g.19284644C>T - rs750915327 12/119060 1/59519
c.-10C>G r.(=) p.(=) g.19284636G>C - rs781603065 6/128130 0/64059
c.1172delAinsG r.(?) p.(Asp391Gly) g.19231610T>C - - 1/246120 0/123058
c.1063delCinsG r.(?) p.(Pro355Ala) g.19231719G>C - rs774469085 2/200120 0/100057
c.855delGinsA r.(?) p.(Met285Ile) g.19237101C>T - - 0/240072 0/120035
c.842+29delCinsT r.(=) p.(=) g.19239102G>A - rs759901445 1/239262 0/119629
c.639delTinsG r.(?) p.(Pro213=) g.19244108A>C - rs770299120 1/244778 0/122384
c.613delGinsA r.(?) p.(Val205Ile) g.19244134C>T - rs866121696 1/246156 0/123068
c.510-37delGinsA r.(=) p.(=) g.19263963C>T - rs755514949 2/233432 0/116712
c.312delGinsA r.(?) p.(Pro104=) g.19283559C>T - rs768868084 2/245912 0/122953
c.1A>G r.(?) p.(Met1?) g.19284626T>C - rs374477066 7/157482 0/78734
c.7C>T r.(?) p.(Arg3Cys) g.19284620G>A - rs17851878 126/163016 0/81382
c.18G>C r.(?) p.(Met6Ile) g.19284609C>G - rs752206642 6/177026 1/88508
c.22C>T r.(?) p.(Leu8=) g.19284605G>A - rs140723099 543/182310 4/90616
c.35C>A r.(?) p.(Ser12Tyr) g.19284592G>T - rs144576108 54/187294 1/93593
c.35C>T r.(?) p.(Ser12Phe) g.19284592G>A - rs144576108 1/187294 0/93593
c.53A>T r.(?) p.(Tyr18Phe) g.19284574T>A - rs749530404 2/189898 0/94947
c.57G>C r.(?) p.(Leu19=) g.19284570C>G - rs769846612 3/190806 0/95400
c.58G>C r.(?) p.(Glu20Gln) g.19284569C>G - rs745996120 2/190590 0/95293
c.70C>G r.(?) p.(Arg24Gly) g.19284557G>C - - 1/187398 0/93698
c.91G>C r.(?) p.(Gly31Arg) g.19284536C>G - rs758085219 2/173024 0/86510
c.102A>C r.(?) p.(Leu34Phe) g.19284525T>G - rs753354281 2/163036 0/81516
c.131A>C r.(?) p.(Tyr44Ser) g.19284496T>G - - 1/135102 0/67550
c.153C>G r.(?) p.(Ser51Arg) g.19284474G>C - rs745897077 3/111452 0/55723
c.160A>C r.(?) p.(Lys54Gln) g.19284467T>G - rs776589502 1/102332 0/51165
c.162+3G>A r.spl? p.? g.19284462C>T - rs76867119 238/91992 4/45762
c.162+25G>A r.(=) p.(=) g.19284440C>T - rs761868910 5/56660 0/28325
c.162+29G>C r.(=) p.(=) g.19284436C>G - - 2/52060 0/26028
c.162+48G>C r.(=) p.(=) g.19284417C>G - rs753328196 2/32462 0/16229
c.163-49G>A r.(=) p.(=) g.19283757C>T - - 1/238724 0/119361
c.163-42A>G r.(=) p.(=) g.19283750T>C - - 1/240442 0/120220
c.163-39_163-38del r.(=) p.(=) g.19283746_19283747del - - 3/241792 0/120893
c.163-38T>C r.(=) p.(=) g.19283746A>G - rs765824561 1/241280 0/120636
c.163-36C>A r.(=) p.(=) g.19283744G>T - - 1/242220 0/121109
c.163-35T>C r.(=) p.(=) g.19283743A>G - - 1/242496 0/121247
c.163-22C>T r.(=) p.(=) g.19283730G>A - rs756035597 1/245190 0/122594
c.163-17A>C r.(=) p.(=) g.19283725T>G - rs750341710 4/245530 0/122761
c.163-12T>G r.(=) p.(=) g.19283720A>C - rs767504747 1/245766 0/122882
c.163-9T>G r.(=) p.(=) g.19283717A>C - rs761594107 2/245846 0/122921
c.163-6delC r.(=) p.(=) g.19283714del - rs773303944 1/245872 0/122935
c.163-6C>T r.(=) p.(=) g.19283714G>A - rs190167951 1/245848 0/122922
c.164A>G r.(?) p.(Lys55Arg) g.19283707T>C - - 1/245982 0/122990
c.165A>G r.(?) p.(Lys55=) g.19283706T>C - - 1/245946 0/122972
c.173T>C r.(?) p.(Leu58Ser) g.19283698A>G - rs774139189 4/246126 0/123059
c.174A>G r.(?) p.(Leu58=) g.19283697T>C - rs765442940 1/246128 0/123059
c.174_175del r.(?) p.(Leu58PhefsTer5) g.19283696_19283697del - rs765171035 4/246156 0/123074
c.177G>C r.(?) p.(Val59=) g.19283694C>G - rs759700913 4/246168 0/123080
c.179C>G r.(?) p.(Thr60Ser) g.19283692G>C - - 1/246168 0/123083
c.186T>C r.(?) p.(Gly62=) g.19283685A>G - - 1/246180 0/123089
c.190_191del r.(?) p.(Ser64PhefsTer32) g.19283680_19283681del - rs761954434 1/246226 0/123112
c.191G>A r.(?) p.(Ser64Asn) g.19283680C>T - rs776733602 4/246224 0/123106
c.191G>T r.(?) p.(Ser64Ile) g.19283680C>A - rs776733602 1/246224 0/123106
c.199C>T r.(?) p.(Arg67Cys) g.19283672G>A - rs770885442 1/246234 0/123116
c.200G>T r.(?) p.(Arg67Leu) g.19283671C>A - rs747133283 2/246232 0/123114
c.201C>T r.(?) p.(Arg67=) g.19283670G>A - - 1/246240 0/123119
c.204C>G r.(?) p.(Phe68Leu) g.19283667G>C - - 1/246230 0/123114
c.208C>T r.(?) p.(Gln70Ter) g.19283663G>A - - 3/246250 0/123122
c.209A>T r.(?) p.(Gln70Leu) g.19283662T>A - rs773841701 1/246256 0/123127
c.213C>A r.(?) p.(Asp71Glu) g.19283658G>T - rs139550487 8/246254 0/123119
c.217T>G r.(?) p.(Cys73Gly) g.19283654A>C - rs748455646 1/246258 0/123128
c.220C>A r.(?) p.(Pro74Thr) g.19283651G>T - rs779156351 2/246256 0/123126
c.222C>T r.(?) p.(Pro74=) g.19283649G>A - - 1/246256 0/123126
c.222C>G r.(?) p.(Pro74=) g.19283649G>C - - 1/246256 0/123126
c.225G>A r.(?) p.(Val75=) g.19283646C>T - rs768303347 1/246256 0/123127
c.228T>C r.(?) p.(Val76=) g.19283643A>G - rs748920944 1/246254 0/123126
c.229A>G r.(?) p.(Thr77Ala) g.19283642T>C - - 1/246256 0/123127
c.230C>T r.(?) p.(Thr77Ile) g.19283641G>A - - 1/246256 0/123127
c.242A>C r.(?) p.(Tyr81Ser) g.19283629T>G - rs572910842 1/246260 0/123129
c.243C>A r.(?) p.(Tyr81Ter) g.19283628G>T - rs755570212 3/246260 0/123127
c.245C>G r.(?) p.(Pro82Arg) g.19283626G>C - - 1/246254 0/123126
c.249G>T r.(?) p.(Thr83=) g.19283622C>A - - 1/246252 0/123125
c.250G>T r.(?) p.(Val84Phe) g.19283621C>A - rs781043276 2/246256 0/123120
c.250G>A r.(?) p.(Val84Ile) g.19283621C>T - rs781043276 6/246256 0/123120
c.251T>C r.(?) p.(Val84Ala) g.19283620A>G - rs757203734 1/246252 0/123125
c.252C>G r.(?) p.(Val84=) g.19283619G>C - rs150557549 139/246254 0/122988
c.264G>C r.(?) p.(Glu88Asp) g.19283607C>G - rs142589005 5/246262 0/123125
c.264G>T r.(?) p.(Glu88Asp) g.19283607C>A - rs142589005 1/246262 0/123125
c.266delG r.(?) p.(Gly89ValfsTer72) g.19283605del - - 1/246256 0/123127
c.266G>C r.(?) p.(Gly89Ala) g.19283605C>G - - 1/246256 0/123126
c.268C>G r.(?) p.(Arg90Gly) g.19283603G>C - rs534259537 2/246250 0/123123
c.279C>T r.(?) p.(Thr93=) g.19283592G>A - rs578165427 42/246234 0/123075
c.280_290del r.(?) p.(Leu94PhefsTer13) g.19283581_19283591del - rs776638883 1/246160 0/123079
c.285T>C r.(?) p.(Leu95=) g.19283586A>G - rs374102085 3/246228 0/123110
c.287G>A r.(?) p.(Arg96Lys) g.19283584C>T - rs760830585 1/246208 0/123102
c.289C>T r.(?) p.(Pro97Ser) g.19283582G>A - rs137936391 1/246214 0/123105
c.290C>T r.(?) p.(Pro97Leu) g.19283581G>A - - 1/246220 0/123108
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