ClinVar Miner

List of variants reported as likely pathogenic for Stankiewicz-Isidor syndrome

Included ClinVar conditions (1):

Stankiewicz-Isidor syndrome

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_002816.5(PSMD12):c.1084-1G>A	rs2509679289
NM_002816.5(PSMD12):c.1301C>A (p.Ser434Ter)
NM_002816.5(PSMD12):c.333T>A (p.Tyr111Ter)	rs140191153

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