ClinVar Miner

List of variants in gene ATP6V0A2 studied for not specified

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789 0.66312
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66054
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.65907
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456 0.02527
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_012463.4(ATP6V0A2):c.1039-14T>C rs115569365 0.01308
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884 0.01166
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336 0.00931
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00727
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143 0.00258
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791 0.00150
NM_012463.4(ATP6V0A2):c.1189+12G>T rs377235629 0.00085
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657 0.00078
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val) rs139509075 0.00045
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641 0.00035
NM_012463.4(ATP6V0A2):c.1327-16G>A rs149092701 0.00033
NM_012463.4(ATP6V0A2):c.309G>T (p.Lys103Asn) rs144499089 0.00026
NM_012463.4(ATP6V0A2):c.614C>T (p.Ala205Val) rs143802431 0.00025
NM_012463.4(ATP6V0A2):c.840C>A (p.Thr280=) rs139680786 0.00010
NM_012463.4(ATP6V0A2):c.2308C>T (p.Leu770=) rs149439834 0.00008
NM_012463.4(ATP6V0A2):c.768C>T (p.Ala256=) rs373419502 0.00005
NM_012463.4(ATP6V0A2):c.2246A>G (p.Asn749Ser) rs941238473 0.00004
NM_012463.4(ATP6V0A2):c.298C>G (p.Gln100Glu) rs551494374 0.00004
NM_012463.4(ATP6V0A2):c.410C>T (p.Thr137Ile) rs780788821 0.00004
NM_012463.4(ATP6V0A2):c.1485C>T (p.Pro495=) rs759980365 0.00003
NM_012463.4(ATP6V0A2):c.521+17G>A rs192339944 0.00002
NM_012463.4(ATP6V0A2):c.1057A>G (p.Ile353Val) rs374873455 0.00001
NM_012463.4(ATP6V0A2):c.1214C>T (p.Pro405Leu) rs750788949 0.00001
NM_012463.4(ATP6V0A2):c.1401C>G (p.Ile467Met) rs1555298476 0.00001
NM_012463.4(ATP6V0A2):c.1452C>T (p.Asn484=) rs567406924 0.00001
NM_012463.4(ATP6V0A2):c.1724+20T>A rs778282853 0.00001
NM_012463.4(ATP6V0A2):c.2469A>G (p.Val823=) rs775830030 0.00001
NM_012463.4(ATP6V0A2):c.795G>A (p.Gly265=) rs754399086 0.00001
NM_012463.4(ATP6V0A2):c.806G>A (p.Arg269His) rs1295585374 0.00001
NM_012463.4(ATP6V0A2):c.1147G>A (p.Val383Met) rs1555298342
NM_012463.4(ATP6V0A2):c.1215G>A (p.Pro405=) rs1171365721
NM_012463.4(ATP6V0A2):c.1577G>A (p.Arg526Gln) rs757432786
NM_012463.4(ATP6V0A2):c.196+15T>G rs1404046246
NM_012463.4(ATP6V0A2):c.2056-14C>G rs375232199
NM_012463.4(ATP6V0A2):c.2056-2dup
NM_012463.4(ATP6V0A2):c.2466-4_2466-3del rs370511382
NM_012463.4(ATP6V0A2):c.295-17C>A rs1555296412
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.521+14C>G rs747194853
NM_012463.4(ATP6V0A2):c.548G>A (p.Gly183Glu) rs1555296748
NM_012463.4(ATP6V0A2):c.732-23T>C rs2271660

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