ClinVar Miner

List of variants in gene ABHD5 studied for not provided

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Gene type:
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Total variants: 165
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HGVS dbSNP gnomAD frequency
NM_016006.6(ABHD5):c.506+329C>T rs17075884 0.08101
NM_016006.6(ABHD5):c.134-197C>A rs9862268 0.07517
NM_016006.6(ABHD5):c.*38T>G rs887472 0.06058
NM_016006.6(ABHD5):c.*281C>A rs34226283 0.04705
NM_016006.6(ABHD5):c.774-296A>G rs75936437 0.01825
NM_016006.6(ABHD5):c.48-203T>C rs34236746 0.01230
NM_016006.6(ABHD5):c.960+189G>A rs112509169 0.00974
NM_016006.6(ABHD5):c.341G>T (p.Arg114Leu) rs148743497 0.00793
NM_016006.6(ABHD5):c.506+95A>G rs150873257 0.00526
NM_016006.6(ABHD5):c.202T>C (p.Phe68Leu) rs115209685 0.00474
NM_016006.6(ABHD5):c.48-4C>G rs183345998 0.00066
NM_016006.6(ABHD5):c.961-15C>T rs375012502 0.00038
NM_016006.6(ABHD5):c.201G>C (p.Lys67Asn) rs200927822 0.00016
NM_016006.6(ABHD5):c.519C>T (p.Leu173=) rs372094906 0.00014
NM_016006.6(ABHD5):c.215T>C (p.Ile72Thr) rs2302349 0.00009
NM_016006.6(ABHD5):c.701G>A (p.Arg234Gln) rs369577285 0.00007
NM_016006.6(ABHD5):c.258A>C (p.Gly86=) rs537368660 0.00005
NM_016006.6(ABHD5):c.1025A>G (p.Lys342Arg) rs754772724 0.00004
NM_016006.6(ABHD5):c.403A>G (p.Ile135Val) rs765897182 0.00004
NM_016006.6(ABHD5):c.489G>A (p.Ser163=) rs377223020 0.00004
NM_016006.6(ABHD5):c.70C>T (p.Leu24Phe) rs773350263 0.00004
NM_016006.6(ABHD5):c.195A>G (p.Thr65=) rs779669249 0.00003
NM_016006.6(ABHD5):c.430T>C (p.Leu144=) rs767197048 0.00003
NM_016006.6(ABHD5):c.774-7G>A rs987013194 0.00003
NM_016006.6(ABHD5):c.885C>T (p.Gly295=) rs746970260 0.00003
NM_016006.6(ABHD5):c.228T>G (p.Thr76=) rs377718797 0.00002
NM_016006.6(ABHD5):c.340C>T (p.Arg114Ter) rs752473449 0.00002
NM_016006.6(ABHD5):c.715A>G (p.Met239Val) rs189325485 0.00002
NM_016006.6(ABHD5):c.730dup (p.Thr244fs) rs754573124 0.00002
NM_016006.6(ABHD5):c.399A>C (p.Glu133Asp) rs200595589 0.00001
NM_016006.6(ABHD5):c.444C>T (p.Ile148=) rs753853386 0.00001
NM_016006.6(ABHD5):c.798G>A (p.Met266Ile) rs1030871913 0.00001
NM_016006.6(ABHD5):c.*1860del rs571429944
NM_016006.6(ABHD5):c.1006G>T (p.Glu336Ter) rs762662276
NM_016006.6(ABHD5):c.1035C>T (p.Cys345=)
NM_016006.6(ABHD5):c.1038C>T (p.Asp346=)
NM_016006.6(ABHD5):c.1049G>A (p.Ter350=)
NM_016006.6(ABHD5):c.120G>A (p.Glu40=)
NM_016006.6(ABHD5):c.133+19A>T
NM_016006.6(ABHD5):c.133+20A>G
NM_016006.6(ABHD5):c.133+6G>A rs764691568
NM_016006.6(ABHD5):c.133T>A (p.Cys45Ser)
NM_016006.6(ABHD5):c.134-11G>C
NM_016006.6(ABHD5):c.134-14T>G
NM_016006.6(ABHD5):c.134-15T>G
NM_016006.6(ABHD5):c.134-18C>T
NM_016006.6(ABHD5):c.140C>T (p.Pro47Leu)
NM_016006.6(ABHD5):c.145A>G (p.Thr49Ala)
NM_016006.6(ABHD5):c.162T>A (p.Pro54=)
NM_016006.6(ABHD5):c.167G>A (p.Arg56His)
NM_016006.6(ABHD5):c.169A>G (p.Ile57Val)
NM_016006.6(ABHD5):c.221A>G (p.Asn74Ser)
NM_016006.6(ABHD5):c.228T>C (p.Thr76=) rs377718797
NM_016006.6(ABHD5):c.262C>G (p.Leu88Val)
NM_016006.6(ABHD5):c.282T>C (p.Asn94=)
NM_016006.6(ABHD5):c.285del (p.Phe95fs)
NM_016006.6(ABHD5):c.291T>C (p.Asp97=)
NM_016006.6(ABHD5):c.295T>G (p.Cys99Gly)
NM_016006.6(ABHD5):c.300C>G (p.Thr100=)
NM_016006.6(ABHD5):c.314A>G (p.Tyr105Cys)
NM_016006.6(ABHD5):c.324C>T (p.Asp108=)
NM_016006.6(ABHD5):c.327A>G (p.Leu109=)
NM_016006.6(ABHD5):c.328T>C (p.Leu110=)
NM_016006.6(ABHD5):c.352C>A (p.Pro118Thr)
NM_016006.6(ABHD5):c.379G>A (p.Val127Met)
NM_016006.6(ABHD5):c.386A>G (p.Asn129Ser)
NM_016006.6(ABHD5):c.396G>A (p.Val132=)
NM_016006.6(ABHD5):c.411G>A (p.Glu137=)
NM_016006.6(ABHD5):c.432G>A (p.Leu144=)
NM_016006.6(ABHD5):c.442A>T (p.Ile148Phe)
NM_016006.6(ABHD5):c.463G>C (p.Gly155Arg)
NM_016006.6(ABHD5):c.48-16G>C
NM_016006.6(ABHD5):c.48-20T>C
NM_016006.6(ABHD5):c.48-6C>T
NM_016006.6(ABHD5):c.482C>T (p.Ala161Val)
NM_016006.6(ABHD5):c.506+289TTA[2] rs142265880
NM_016006.6(ABHD5):c.506+9T>C rs773922601
NM_016006.6(ABHD5):c.507-15T>G
NM_016006.6(ABHD5):c.507-1G>A
NM_016006.6(ABHD5):c.507-4A>G
NM_016006.6(ABHD5):c.507-8C>T
NM_016006.6(ABHD5):c.508G>T (p.Val170Phe)
NM_016006.6(ABHD5):c.512A>G (p.Asn171Ser)
NM_016006.6(ABHD5):c.515A>G (p.His172Arg)
NM_016006.6(ABHD5):c.528G>T (p.Val176=)
NM_016006.6(ABHD5):c.540T>C (p.Gly180=)
NM_016006.6(ABHD5):c.550C>A (p.Arg184=)
NM_016006.6(ABHD5):c.550C>T (p.Arg184Ter) rs138876970
NM_016006.6(ABHD5):c.578C>A (p.Pro193Gln)
NM_016006.6(ABHD5):c.588_591del (p.Trp197fs) rs1553616447
NM_016006.6(ABHD5):c.591G>A (p.Trp197Ter) rs767648866
NM_016006.6(ABHD5):c.616A>T (p.Thr206Ser)
NM_016006.6(ABHD5):c.628C>G (p.Pro210Ala)
NM_016006.6(ABHD5):c.638G>C (p.Gly213Ala)
NM_016006.6(ABHD5):c.63T>C (p.Thr21=)
NM_016006.6(ABHD5):c.647T>C (p.Ile216Thr)
NM_016006.6(ABHD5):c.651A>G (p.Ala217=)
NM_016006.6(ABHD5):c.654A>G (p.Gly218=)
NM_016006.6(ABHD5):c.661+13G>A
NM_016006.6(ABHD5):c.661+17T>C
NM_016006.6(ABHD5):c.662-19T>A
NM_016006.6(ABHD5):c.663T>A (p.Gly221=)
NM_016006.6(ABHD5):c.66T>C (p.Gly22=)
NM_016006.6(ABHD5):c.670C>G (p.Leu224Val)
NM_016006.6(ABHD5):c.680G>A (p.Arg227His)
NM_016006.6(ABHD5):c.699A>G (p.Lys233=)
NM_016006.6(ABHD5):c.700C>T (p.Arg234Ter)
NM_016006.6(ABHD5):c.702A>G (p.Arg234=)
NM_016006.6(ABHD5):c.720C>G (p.Phe240Leu)
NM_016006.6(ABHD5):c.720C>T (p.Phe240=)
NM_016006.6(ABHD5):c.721G>A (p.Glu241Lys)
NM_016006.6(ABHD5):c.726C>T (p.Asp242=)
NM_016006.6(ABHD5):c.727G>C (p.Asp243His)
NM_016006.6(ABHD5):c.72C>T (p.Leu24=)
NM_016006.6(ABHD5):c.735G>A (p.Val245=)
NM_016006.6(ABHD5):c.741A>G (p.Glu247=)
NM_016006.6(ABHD5):c.742T>C (p.Tyr248His)
NM_016006.6(ABHD5):c.752A>C (p.His251Pro)
NM_016006.6(ABHD5):c.753C>T (p.His251=)
NM_016006.6(ABHD5):c.759T>C (p.Asn253=)
NM_016006.6(ABHD5):c.773+1del
NM_016006.6(ABHD5):c.773+28TG[15] rs10662733
NM_016006.6(ABHD5):c.773+28TG[18] rs10662733
NM_016006.6(ABHD5):c.773+28TG[19] rs10662733
NM_016006.6(ABHD5):c.773+28TG[20] rs10662733
NM_016006.6(ABHD5):c.773+28TG[21] rs10662733
NM_016006.6(ABHD5):c.773+28TG[22] rs10662733
NM_016006.6(ABHD5):c.773+61_773+62insGT rs2149604791
NM_016006.6(ABHD5):c.773+7G>T
NM_016006.6(ABHD5):c.773+95TATT[4] rs10544015
NM_016006.6(ABHD5):c.774-10G>A
NM_016006.6(ABHD5):c.774-16C>T
NM_016006.6(ABHD5):c.774-8C>G
NM_016006.6(ABHD5):c.774-8C>T
NM_016006.6(ABHD5):c.774del (p.Ser258fs)
NM_016006.6(ABHD5):c.780G>A (p.Glu260=)
NM_016006.6(ABHD5):c.78A>G (p.Thr26=)
NM_016006.6(ABHD5):c.804T>A (p.Ile268=)
NM_016006.6(ABHD5):c.810T>C (p.Tyr270=)
NM_016006.6(ABHD5):c.818C>A (p.Ala273Glu)
NM_016006.6(ABHD5):c.829A>G (p.Met277Val)
NM_016006.6(ABHD5):c.832C>G (p.Leu278Val)
NM_016006.6(ABHD5):c.836del (p.Gln279fs) rs773892644
NM_016006.6(ABHD5):c.841A>G (p.Ile281Val)
NM_016006.6(ABHD5):c.852G>A (p.Met284Ile)
NM_016006.6(ABHD5):c.855C>T (p.His285=)
NM_016006.6(ABHD5):c.856C>A (p.Pro286Thr)
NM_016006.6(ABHD5):c.879C>T (p.Ile293=)
NM_016006.6(ABHD5):c.87T>C (p.Pro29=)
NM_016006.6(ABHD5):c.885C>A (p.Gly295=) rs746970260
NM_016006.6(ABHD5):c.886G>A (p.Ala296Thr)
NM_016006.6(ABHD5):c.905G>T (p.Gly302Val)
NM_016006.6(ABHD5):c.908A>G (p.Asn303Ser)
NM_016006.6(ABHD5):c.90G>A (p.Thr30=)
NM_016006.6(ABHD5):c.911C>T (p.Ser304Phe)
NM_016006.6(ABHD5):c.912T>C (p.Ser304=)
NM_016006.6(ABHD5):c.922A>G (p.Ile308Val)
NM_016006.6(ABHD5):c.930C>T (p.Ser310=)
NM_016006.6(ABHD5):c.936A>G (p.Arg312=)
NM_016006.6(ABHD5):c.959T>C (p.Ile320Thr)
NM_016006.6(ABHD5):c.960+5G>A rs894423675
NM_016006.6(ABHD5):c.961-16G>A
NM_016006.6(ABHD5):c.975A>G (p.Ala325=)
NM_016006.6(ABHD5):c.977G>A (p.Gly326Glu)
NM_016006.6(ABHD5):c.978A>T (p.Gly326=)

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