ClinVar Miner

List of variants reported as uncertain significance for Werdnig-Hoffmann disease by Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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NM_000344.3(SMN1):c.490C>A (p.Gln164Lys) rs1561499713
NM_000344.3(SMN1):c.662C>T (p.Pro221Leu) rs1336155324

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