ClinVar Miner

List of variants reported as likely pathogenic for Simpson-Golabi-Behmel syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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NM_001164617.2(GPC3):c.1563C>A (p.Cys521Ter) rs753210097
NM_004484.3(GPC3):c.1692del (p.Leu565fs) rs886039908
NM_004484.3(GPC3):c.974C>A (p.Ser325Ter) rs1569426054

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