ClinVar Miner

List of variants reported as uncertain significance for ALG9-CDG

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_012463.4(ATP6V0A2):c.2339G>A (p.Arg780His) rs774276857
NM_012463.4(ATP6V0A2):c.2384C>T (p.Ala795Val) rs139509075
NM_012463.4(ATP6V0A2):c.515A>G (p.Lys172Arg) rs142935490
NM_012463.4(ATP6V0A2):c.745G>A (p.Val249Met)
NM_024740.2(ALG9):c.129C>T (p.Thr43=) rs1311317470
NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys)
NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter) rs1555064204
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204
NM_024740.2(ALG9):c.896-3C>T rs782063335

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