List of variants in gene combination LOC130005193, SMPD1 reported as pathogenic for hereditary peripheral neuropathy

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 11

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NC_000011.10:g.6390221_6390884del
NM_000543.5(SMPD1):c.28C>T (p.Gln10Ter)	rs1205990349
NM_000543.5(SMPD1):c.39del (p.Arg14fs)	rs2134004594
NM_000543.5(SMPD1):c.43del (p.Ser15fs)	rs2134004628
NM_000543.5(SMPD1):c.52G>T (p.Glu18Ter)	rs1428487333
NM_000543.5(SMPD1):c.56del (p.Gln19fs)	rs1554933746
NM_000543.5(SMPD1):c.57_60dup (p.Gln21fs)	rs1847857299
NM_000543.5(SMPD1):c.61C>T (p.Gln21Ter)	rs1554933751
NM_000543.5(SMPD1):c.69del (p.Thr24fs)
NM_000543.5(SMPD1):c.7del (p.Arg3fs)	rs281860663
NM_000543.5(SMPD1):c.84del (p.Gly29fs)	rs750157176

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.