ClinVar Miner

List of variants reported as pathogenic 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: 6
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NM_000344.3(SMN1):c.48_55dup (p.Val19fs) rs1561498701
NM_000344.3(SMN1):c.5C>G (p.Ala2Gly) rs1554066397
NM_000344.3(SMN1):c.724-2A>G rs1561500842
NM_000344.3(SMN1):c.770_780dup (p.Gly261fs) rs1561500847
NM_000344.3(SMN1):c.835-2A>G rs141760116
NM_000344.3(SMN1):c.835-3C>T rs772466166

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