ClinVar Miner

List of variants in gene ATP6V0A2 studied for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060
NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) rs774276857
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg) rs142935490
NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met)
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs) rs745590426

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