ClinVar Miner

List of variants in gene SMN1 reported as pathogenic for Werdnig-Hoffmann disease

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 28
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NM_000344.3(SMN1):c.131A>T (p.Asp44Val) rs104893931
NM_000344.3(SMN1):c.283G>C (p.Gly95Arg) rs104893927
NM_000344.3(SMN1):c.305G>A (p.Trp102Ter) rs77804083
NM_000344.3(SMN1):c.332C>G (p.Ala111Gly) rs104893935
NM_000344.3(SMN1):c.346A>T (p.Ile116Phe) rs104893933
NM_000344.3(SMN1):c.388T>C (p.Tyr130His) rs397514518
NM_000344.3(SMN1):c.389A>G (p.Tyr130Cys) rs397514517
NM_000344.3(SMN1):c.397_398AG[1] (p.Glu134fs)
NM_000344.3(SMN1):c.406C>G (p.Gln136Glu) rs104893934
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.784A>G (p.Ser262Gly) rs104893932
NM_000344.3(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.3(SMN1):c.815A>G (p.Tyr272Cys) rs104893922
NM_000344.3(SMN1):c.821C>T (p.Thr274Ile) rs1554066666
NM_000344.3(SMN1):c.835-2A>G rs141760116
NM_000344.3(SMN1):c.835-3C>T rs772466166
NM_000344.3(SMN1):c.836G>T (p.Gly279Val) rs76163360
NM_000344.3(SMN1):c.840C>T (p.Phe280=) rs1164325688
NM_000344.3(SMN1):c.88G>A (p.Asp30Asn) rs104893930
SMN1, 11-BP DUP, 801-811
SMN1, 5-BP DEL, 425
SMN1, IVS7DS, T-G, +6
Single allele rs1554082110

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