ClinVar Miner

List of variants in gene ATP6V0A2 reported as benign by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 36
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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 0.66838
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66560
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.66455
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456 0.02527
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02215
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_012463.4(ATP6V0A2):c.1039-14T>C rs115569365 0.01218
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884 0.01097
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336 0.00931
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00675
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143 0.00258
NM_012463.4(ATP6V0A2):c.2238C>T (p.Cys746=) rs138886791 0.00148
NM_012463.4(ATP6V0A2):c.1039-12T>C rs190537134 0.00121
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296 0.00088
NM_012463.4(ATP6V0A2):c.1189+12G>T rs377235629 0.00082
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657 0.00078
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=) rs142454880 0.00068
NM_012463.4(ATP6V0A2):c.1327-16G>A rs149092701 0.00042
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641 0.00035
NM_012463.4(ATP6V0A2):c.1128C>T (p.Thr376=) rs138172178 0.00021
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=) rs367950442 0.00021
NM_012463.4(ATP6V0A2):c.447T>C (p.Tyr149=) rs140835376 0.00021
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=) rs2271659 0.00014
NM_012463.4(ATP6V0A2):c.603C>T (p.Ile201=) rs181112338 0.00013
NM_012463.4(ATP6V0A2):c.2340C>T (p.Arg780=) rs201694504 0.00011
NM_012463.4(ATP6V0A2):c.2294-4G>A rs551697992 0.00001
NM_012463.4(ATP6V0A2):c.118-6del rs2541834869
NM_012463.4(ATP6V0A2):c.1190-7dup rs763934108
NM_012463.4(ATP6V0A2):c.1724+20del rs375845531
NM_012463.4(ATP6V0A2):c.1724+20dup rs375845531
NM_012463.4(ATP6V0A2):c.2466-3del rs370511382
NM_012463.4(ATP6V0A2):c.2466-3dup rs370511382
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.522-13del rs140638516

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