ClinVar Miner

List of variants reported as pathogenic for Wiedemann-Steiner syndrome by Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP
NM_005445.3(SMC3):c.2536-5_2541del rs727503775
NM_006306.3(SMC1A):c.121C>T (p.Leu41Phe) rs727503776
NM_006306.3(SMC1A):c.2974-2A>G rs727503774

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