List of variants in gene SMN1 studied for Kugelberg-Welander disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 18

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000344.4(SMN1):c.5C>G (p.Ala2Gly)	rs1554066397	0.00571
NC_000005.9:g.70247853_70247854ins[N[1090];70247841_70247853]
NG_008691.1:g.(32498_32055)_(33073_?)del
NM_000344.3:c.3+32_3+33insSVA
NM_000344.4(SMN1):c.131A>T (p.Asp44Val)	rs104893931
NM_000344.4(SMN1):c.278A>C (p.Lys93Thr)	rs1580886828
NM_000344.4(SMN1):c.283G>C (p.Gly95Arg)	rs104893927
NM_000344.4(SMN1):c.305G>A (p.Trp102Ter)	rs77804083
NM_000344.4(SMN1):c.379T>C (p.Tyr127His)	rs1749441633
NM_000344.4(SMN1):c.388T>C (p.Tyr130His)	rs397514518
NM_000344.4(SMN1):c.389A>G (p.Tyr130Cys)	rs397514517
NM_000344.4(SMN1):c.399_402del (p.Glu134fs)	rs77668214
NM_000344.4(SMN1):c.724-2A>G	rs1561500842
NM_000344.4(SMN1):c.784A>G (p.Ser262Gly)	rs104893932
NM_000344.4(SMN1):c.785G>T (p.Ser262Ile)	rs1554066659
NM_000344.4(SMN1):c.801G>A (p.Trp267Ter)
NM_000344.4(SMN1):c.821C>T (p.Thr274Ile)	rs1554066666
NM_000344.4(SMN1):c.834+6T>G	rs2112814388

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.