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

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_002816.5(PSMD12):c.1033G>T (p.Glu345Ter)	rs1403781576
NM_002816.5(PSMD12):c.1078G>T (p.Glu360Ter)	rs2143688328
NM_002816.5(PSMD12):c.1274T>G (p.Leu425Ter)	rs1114167443
NM_002816.5(PSMD12):c.148_149del (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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