ClinVar Miner

List of variants in gene ATP6V0A2 reported as benign for ALG9 congenital disorder of glycosylation

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Total variants: 24
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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.1128C>T (p.Thr376=) rs138172178
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu) rs138716143
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.1606-12G>A rs112415338
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=) rs2271659
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=) rs73420342
NM_012463.4(ATP6V0A2):c.2014T>C (p.Leu672=) rs367950442
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410
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.2294-4G>A rs551697992
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.264G>T (p.Ala88=) rs139785866
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.777G>A (p.Arg259=) rs73420336

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