ClinVar Miner

List of variants in gene PSMD12 reported as pathogenic for Stankiewicz-Isidor syndrome

Included ClinVar conditions (1):
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Gene type:
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Total variants: 6
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HGVS dbSNP
NM_002816.5(PSMD12):c.1033G>T (p.Glu345Ter) rs1403781576
NM_002816.5(PSMD12):c.1274T>G (p.Leu425Ter) rs1114167443
NM_002816.5(PSMD12):c.142_143CT[3] (p.Leu50fs) rs1598574154
NM_002816.5(PSMD12):c.367C>T (p.Arg123Ter) rs1114167442
NM_002816.5(PSMD12):c.601C>T (p.Arg201Ter) rs895130488
NM_002816.5(PSMD12):c.909-2A>G rs1114167444

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