ClinVar Miner

List of variants in gene ATP6V0A2 reported by Invitae

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Total variants: 74
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HGVS dbSNP
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060
NM_012463.4(ATP6V0A2):c.1038G>T (p.Ser346=)
NM_012463.4(ATP6V0A2):c.1062dup (p.Ser355fs)
NM_012463.4(ATP6V0A2):c.1065A>G (p.Ser355=) rs1593910063
NM_012463.4(ATP6V0A2):c.1069A>T (p.Met357Leu) rs146967928
NM_012463.4(ATP6V0A2):c.1096C>T (p.Pro366Ser) rs372416067
NM_012463.4(ATP6V0A2):c.1118A>G (p.Asn373Ser)
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187
NM_012463.4(ATP6V0A2):c.1128C>T (p.Thr376=) rs138172178
NM_012463.4(ATP6V0A2):c.1164C>T (p.Val388=) rs757645572
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143
NM_012463.4(ATP6V0A2):c.1326+7_1326+15dup rs1593910803
NM_012463.4(ATP6V0A2):c.1432C>G (p.Leu478Val)
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=) rs146156426
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=) rs142454880
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657
NM_012463.4(ATP6V0A2):c.1605+1G>A
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338
NM_012463.4(ATP6V0A2):c.1665C>T (p.Ser555=) rs373155729
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=) rs2271659
NM_012463.4(ATP6V0A2):c.1766C>T (p.Pro589Leu) rs149700024
NM_012463.4(ATP6V0A2):c.1831_1832delinsA (p.Val611fs)
NM_012463.4(ATP6V0A2):c.1848C>T (p.Thr616=) rs776365183
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=) rs73420342
NM_012463.4(ATP6V0A2):c.18G>A (p.Arg6=)
NM_012463.4(ATP6V0A2):c.1926C>T (p.Tyr642=) rs1593915216
NM_012463.4(ATP6V0A2):c.1936-7C>T rs370135665
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=) rs367950442
NM_012463.4(ATP6V0A2):c.2043C>T (p.Phe681=) rs202084330
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410
NM_012463.4(ATP6V0A2):c.2203C>T (p.Gln735Ter)
NM_012463.4(ATP6V0A2):c.2220C>T (p.Ile740=) rs770098416
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791
NM_012463.4(ATP6V0A2):c.2250C>T (p.Thr750=)
NM_012463.4(ATP6V0A2):c.2274G>A (p.Ala758=) rs1308437998
NM_012463.4(ATP6V0A2):c.2294-4G>A rs551697992
NM_012463.4(ATP6V0A2):c.2294-6T>C rs756082099
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) rs774276857
NM_012463.4(ATP6V0A2):c.234C>T (p.Pro78=) rs375372808
NM_012463.4(ATP6V0A2):c.2358C>T (p.Gly786=) rs199720540
NM_012463.4(ATP6V0A2):c.2376G>A (p.Pro792=)
NM_012463.4(ATP6V0A2):c.237T>C (p.Leu79=) rs369978210
NM_012463.4(ATP6V0A2):c.2382C>T (p.Ile794=) rs1390474120
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val) rs139509075
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456
NM_012463.4(ATP6V0A2):c.2466-3dup
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884
NM_012463.4(ATP6V0A2):c.2554G>A (p.Asp852Asn)
NM_012463.4(ATP6V0A2):c.2556C>T (p.Asp852=) rs762290613
NM_012463.4(ATP6V0A2):c.2559C>T (p.Asp853=) rs1032324166
NM_012463.4(ATP6V0A2):c.264G>A (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.264G>C (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) rs144499089
NM_012463.4(ATP6V0A2):c.312C>T (p.Leu104=) rs563333869
NM_012463.4(ATP6V0A2):c.33C>T (p.Cys11=) rs1485624455
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg) rs142935490
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431
NM_012463.4(ATP6V0A2):c.652G>C (p.Glu218Gln)
NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met) rs879082266
NM_012463.4(ATP6V0A2):c.773A>G (p.Glu258Gly) rs141467923
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) rs745590426
NM_012463.4(ATP6V0A2):c.791A>G (p.Glu264Gly)
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=) rs139680786
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974
NM_012463.4(ATP6V0A2):c.997G>C (p.Ala333Pro)

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