ClinVar Miner

List of variants in gene ATP6V1A reported as uncertain significance for not provided

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Total variants: 144
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HGVS dbSNP gnomAD frequency
NM_001690.4(ATP6V1A):c.1688A>G (p.Asn563Ser) rs375296671 0.00012
NM_001690.4(ATP6V1A):c.596T>C (p.Val199Ala) rs138543954 0.00008
NM_001690.4(ATP6V1A):c.734C>G (p.Thr245Ser) rs144476994 0.00004
NM_001690.4(ATP6V1A):c.247G>A (p.Gly83Ser) rs778615930 0.00002
NM_001690.4(ATP6V1A):c.434G>C (p.Ser145Thr) rs558250693 0.00002
NM_001690.4(ATP6V1A):c.590A>G (p.Glu197Gly) rs747456726 0.00002
NM_001690.4(ATP6V1A):c.1637C>T (p.Ala546Val) rs571817807 0.00001
NM_001690.4(ATP6V1A):c.29T>G (p.Leu10Arg) rs781640990 0.00001
NM_001690.4(ATP6V1A):c.435T>A (p.Ser145Arg) rs1286320220 0.00001
NM_001690.4(ATP6V1A):c.88A>G (p.Thr30Ala) rs760371089 0.00001
NC_000003.11:g.(?_113505059)_(113507742_?)del
NM_001690.4(ATP6V1A):c.100A>G (p.Met34Val)
NM_001690.4(ATP6V1A):c.1012C>T (p.Arg338Cys) rs1060505036
NM_001690.4(ATP6V1A):c.1015G>T (p.Asp339Tyr)
NM_001690.4(ATP6V1A):c.1025A>G (p.Tyr342Cys)
NM_001690.4(ATP6V1A):c.104C>T (p.Ala35Val)
NM_001690.4(ATP6V1A):c.1075A>G (p.Arg359Gly) rs2108038030
NM_001690.4(ATP6V1A):c.1087G>C (p.Gly363Arg)
NM_001690.4(ATP6V1A):c.1102A>T (p.Met368Leu)
NM_001690.4(ATP6V1A):c.1113T>G (p.Asp371Glu)
NM_001690.4(ATP6V1A):c.1162C>T (p.Arg388Ter)
NM_001690.4(ATP6V1A):c.1166C>T (p.Ala389Val)
NM_001690.4(ATP6V1A):c.1258C>T (p.Pro420Ser)
NM_001690.4(ATP6V1A):c.126G>A (p.Leu42=)
NM_001690.4(ATP6V1A):c.1270G>A (p.Ala424Thr)
NM_001690.4(ATP6V1A):c.1290+6T>C
NM_001690.4(ATP6V1A):c.1309A>G (p.Lys437Glu)
NM_001690.4(ATP6V1A):c.1326dup (p.Lys443Ter) rs2108040657
NM_001690.4(ATP6V1A):c.1329G>A (p.Lys443=)
NM_001690.4(ATP6V1A):c.1337C>T (p.Pro446Leu) rs2108040667
NM_001690.4(ATP6V1A):c.1368G>C (p.Lys456Asn) rs2108040687
NM_001690.4(ATP6V1A):c.1375C>T (p.Arg459Cys)
NM_001690.4(ATP6V1A):c.1376G>A (p.Arg459His)
NM_001690.4(ATP6V1A):c.1379C>A (p.Ala460Asp) rs2108040702
NM_001690.4(ATP6V1A):c.1393T>C (p.Tyr465His)
NM_001690.4(ATP6V1A):c.1394A>G (p.Tyr465Cys)
NM_001690.4(ATP6V1A):c.1402C>T (p.His468Tyr)
NM_001690.4(ATP6V1A):c.1417G>A (p.Val473Ile)
NM_001690.4(ATP6V1A):c.1430C>T (p.Thr477Met)
NM_001690.4(ATP6V1A):c.145G>A (p.Glu49Lys)
NM_001690.4(ATP6V1A):c.1461A>C (p.Glu487Asp)
NM_001690.4(ATP6V1A):c.1475T>C (p.Ile492Thr)
NM_001690.4(ATP6V1A):c.1481A>T (p.Gln494Leu)
NM_001690.4(ATP6V1A):c.1534G>A (p.Ala512Thr)
NM_001690.4(ATP6V1A):c.1546A>G (p.Lys516Glu)
NM_001690.4(ATP6V1A):c.1568A>G (p.Asn523Ser)
NM_001690.4(ATP6V1A):c.157G>A (p.Glu53Lys)
NM_001690.4(ATP6V1A):c.1603T>C (p.Tyr535His)
NM_001690.4(ATP6V1A):c.1611del (p.Thr537_Val538insTer)
NM_001690.4(ATP6V1A):c.1616G>A (p.Gly539Glu)
NM_001690.4(ATP6V1A):c.1618A>T (p.Met540Leu)
NM_001690.4(ATP6V1A):c.1633A>G (p.Ile545Val)
NM_001690.4(ATP6V1A):c.1651G>A (p.Ala551Thr)
NM_001690.4(ATP6V1A):c.1655G>A (p.Arg552His)
NM_001690.4(ATP6V1A):c.1669A>T (p.Thr557Ser)
NM_001690.4(ATP6V1A):c.1670C>A (p.Thr557Asn)
NM_001690.4(ATP6V1A):c.1705A>G (p.Ile569Val)
NM_001690.4(ATP6V1A):c.1708A>C (p.Ile570Leu)
NM_001690.4(ATP6V1A):c.1712G>A (p.Arg571His)
NM_001690.4(ATP6V1A):c.1727A>G (p.Asp576Gly)
NM_001690.4(ATP6V1A):c.1732C>T (p.Leu578Phe)
NM_001690.4(ATP6V1A):c.1733T>C (p.Leu578Pro)
NM_001690.4(ATP6V1A):c.1736A>G (p.Tyr579Cys)
NM_001690.4(ATP6V1A):c.1744T>A (p.Ser582Thr)
NM_001690.4(ATP6V1A):c.1744del (p.Ser582fs)
NM_001690.4(ATP6V1A):c.1745C>G (p.Ser582Cys)
NM_001690.4(ATP6V1A):c.1747T>C (p.Ser583Pro)
NM_001690.4(ATP6V1A):c.1761+5A>T
NM_001690.4(ATP6V1A):c.1769T>A (p.Leu590Gln)
NM_001690.4(ATP6V1A):c.1777G>A (p.Gly593Ser)
NM_001690.4(ATP6V1A):c.1798G>A (p.Asp600Asn)
NM_001690.4(ATP6V1A):c.1822A>T (p.Met608Leu)
NM_001690.4(ATP6V1A):c.1823T>C (p.Met608Thr)
NM_001690.4(ATP6V1A):c.182T>C (p.Met61Thr)
NM_001690.4(ATP6V1A):c.1838G>A (p.Arg613His)
NM_001690.4(ATP6V1A):c.183G>A (p.Met61Ile)
NM_001690.4(ATP6V1A):c.1840_1841insACCTTGAAGATTAGAA (p.Ser614delinsAsnLeuGluAspTer)
NM_001690.4(ATP6V1A):c.217G>A (p.Val73Met)
NM_001690.4(ATP6V1A):c.220T>G (p.Ser74Ala)
NM_001690.4(ATP6V1A):c.223G>T (p.Val75Phe)
NM_001690.4(ATP6V1A):c.253C>A (p.Pro85Thr) rs2108029577
NM_001690.4(ATP6V1A):c.255C>T (p.Pro85=)
NM_001690.4(ATP6V1A):c.258_265delinsGTTTATGCC (p.Ser87fs) rs2108029579
NM_001690.4(ATP6V1A):c.260C>G (p.Ser87Cys)
NM_001690.4(ATP6V1A):c.260_261del (p.Ser87fs)
NM_001690.4(ATP6V1A):c.280A>C (p.Ile94Leu)
NM_001690.4(ATP6V1A):c.280A>G (p.Ile94Val)
NM_001690.4(ATP6V1A):c.296T>C (p.Phe99Ser)
NM_001690.4(ATP6V1A):c.31G>A (p.Asp11Asn)
NM_001690.4(ATP6V1A):c.320C>T (p.Ser107Leu)
NM_001690.4(ATP6V1A):c.327C>T (p.Ile109=)
NM_001690.4(ATP6V1A):c.338C>A (p.Thr113Asn)
NM_001690.4(ATP6V1A):c.374C>G (p.Ser125Cys)
NM_001690.4(ATP6V1A):c.395A>G (p.Lys132Arg)
NM_001690.4(ATP6V1A):c.403T>C (p.Phe135Leu)
NM_001690.4(ATP6V1A):c.410C>T (p.Pro137Leu)
NM_001690.4(ATP6V1A):c.413G>A (p.Cys138Tyr)
NM_001690.4(ATP6V1A):c.424C>T (p.Arg142Trp)
NM_001690.4(ATP6V1A):c.426+3A>G
NM_001690.4(ATP6V1A):c.437A>G (p.His146Arg)
NM_001690.4(ATP6V1A):c.441C>G (p.Ile147Met)
NM_001690.4(ATP6V1A):c.458A>G (p.Tyr153Cys)
NM_001690.4(ATP6V1A):c.467T>C (p.Val156Ala)
NM_001690.4(ATP6V1A):c.474G>C (p.Glu158Asp)
NM_001690.4(ATP6V1A):c.493A>G (p.Lys165Glu) rs2108030006
NM_001690.4(ATP6V1A):c.512G>A (p.Arg171Gln)
NM_001690.4(ATP6V1A):c.535A>G (p.Ile179Val)
NM_001690.4(ATP6V1A):c.536T>C (p.Ile179Thr)
NM_001690.4(ATP6V1A):c.548G>A (p.Gly183Glu)
NM_001690.4(ATP6V1A):c.551A>C (p.Asn184Thr)
NM_001690.4(ATP6V1A):c.565-3T>C
NM_001690.4(ATP6V1A):c.56G>C (p.Gly19Ala)
NM_001690.4(ATP6V1A):c.56G>T (p.Gly19Val)
NM_001690.4(ATP6V1A):c.574T>A (p.Leu192Met)
NM_001690.4(ATP6V1A):c.574T>G (p.Leu192Val)
NM_001690.4(ATP6V1A):c.584A>G (p.Glu195Gly)
NM_001690.4(ATP6V1A):c.587T>A (p.Phe196Tyr)
NM_001690.4(ATP6V1A):c.592G>A (p.Gly198Ser)
NM_001690.4(ATP6V1A):c.593G>T (p.Gly198Val)
NM_001690.4(ATP6V1A):c.594del (p.Gly198_Val199insTer)
NM_001690.4(ATP6V1A):c.605A>G (p.Lys202Arg)
NM_001690.4(ATP6V1A):c.613A>G (p.Met205Val) rs1709039201
NM_001690.4(ATP6V1A):c.625T>C (p.Trp209Arg)
NM_001690.4(ATP6V1A):c.644G>C (p.Arg215Pro)
NM_001690.4(ATP6V1A):c.656A>C (p.Glu219Ala)
NM_001690.4(ATP6V1A):c.65A>G (p.His22Arg)
NM_001690.4(ATP6V1A):c.671ATC[1] (p.His225del)
NM_001690.4(ATP6V1A):c.676C>T (p.Pro226Ser)
NM_001690.4(ATP6V1A):c.692A>G (p.Gln231Arg)
NM_001690.4(ATP6V1A):c.695_716+40del
NM_001690.4(ATP6V1A):c.701T>G (p.Leu234Arg)
NM_001690.4(ATP6V1A):c.715C>T (p.Pro239Ser) rs2108031423
NM_001690.4(ATP6V1A):c.716+1G>T rs755278709
NM_001690.4(ATP6V1A):c.725A>G (p.Gln242Arg) rs2108033355
NM_001690.4(ATP6V1A):c.734C>A (p.Thr245Asn)
NM_001690.4(ATP6V1A):c.761G>A (p.Cys254Tyr)
NM_001690.4(ATP6V1A):c.827G>A (p.Gly276Glu)
NM_001690.4(ATP6V1A):c.845A>G (p.Asn282Ser)
NM_001690.4(ATP6V1A):c.865C>T (p.Arg289Trp)
NM_001690.4(ATP6V1A):c.89C>T (p.Thr30Ile)
NM_001690.4(ATP6V1A):c.907G>C (p.Glu303Gln)
NM_001690.4(ATP6V1A):c.913A>G (p.Ile305Val)
NM_001690.4(ATP6V1A):c.979A>G (p.Ile327Val)
NM_001690.4(ATP6V1A):c.989-3T>C

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