ClinVar Miner

List of variants studied for ALG9-CDG by Invitae

Included ClinVar conditions (3):
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Total variants: 19
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NM_001077691.2(ALG9):c.1025C>T (p.Pro342Leu) rs185149177
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.1590C>T (p.Pro530=) rs80355657
NM_012463.4(ATP6V0A2):c.1936-7C>T rs370135665
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.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
NM_024740.2(ALG9):c.129C>T (p.Thr43=) rs1311317470
NM_024740.2(ALG9):c.1383C>T (p.Thr461=) rs45516107
NM_024740.2(ALG9):c.1399G>A (p.Glu467Lys)
NM_024740.2(ALG9):c.1659C>T (p.Pro553=) rs2276263
NM_024740.2(ALG9):c.1780C>T (p.Gln594Ter) rs1555064204
NM_024740.2(ALG9):c.1794C>T (p.Tyr598=) rs77191760
NM_024740.2(ALG9):c.406-7C>T rs45574638
NM_024740.2(ALG9):c.896-3C>T rs782063335

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