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
Download table as spreadsheet
HGVS dbSNP
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, DEL
SMN1, EX8DEL
SMN1, IVS7DS, T-G, +6
Single allele rs1554082110

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.