ClinVar Miner

List of variants in gene ATP6V0A2 reported as benign by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Total variants: 11
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HGVS dbSNP
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456
NM_012463.4(ATP6V0A2):c.2466-4_2466-3del rs370511382
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884
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

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