ClinVar Miner

List of variants in gene ATP6V0A2 reported by Eurofins NTD LLC (GA)

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Total variants: 31
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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.2549A>G (p.Asn850Ser) rs75279884 0.01166
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
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.2229T>C (p.Cys743=) rs150508296 0.00088
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=) rs142454880 0.00076
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974 0.00037
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284 0.00036
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641 0.00035
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=) rs146156426 0.00034
NM_012463.4(ATP6V0A2):c.1430A>T (p.Asn477Ile) rs532258057 0.00019
NM_012463.4(ATP6V0A2):c.118-7_118-3del rs777322469 0.00013
NM_012463.4(ATP6V0A2):c.1048G>A (p.Gly350Ser) rs768141782 0.00006
NM_012463.4(ATP6V0A2):c.652G>A (p.Glu218Lys) rs759593402 0.00003
NM_012463.4(ATP6V0A2):c.1526T>G (p.Val509Gly) rs760212304 0.00002
NM_012463.4(ATP6V0A2):c.1514+1G>A rs374480381 0.00001
NM_012463.4(ATP6V0A2):c.187C>T (p.Arg63Ter) rs80356750 0.00001
NM_012463.4(ATP6V0A2):c.2338C>T (p.Arg780Cys) rs768609186 0.00001
NM_012463.4(ATP6V0A2):c.2466-4_2466-3del rs370511382
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.304C>T (p.Gln102Ter) rs794727643
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.825+2T>C rs398124257
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=) rs139680786

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