ClinVar Miner

List of variants reported as likely benign for Hereditary sensory and autonomic neuropathy type IC by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_004863.3(SPTLC2):c.1050C>T (p.Gly350=) rs539265514
NM_004863.3(SPTLC2):c.1172A>G (p.Lys391Arg) rs114940503
NM_004863.3(SPTLC2):c.1239T>C (p.Pro413=) rs140041902
NM_004863.3(SPTLC2):c.1303+9T>G rs757545220
NM_004863.3(SPTLC2):c.1320A>G (p.Gln440=) rs377233305
NM_004863.3(SPTLC2):c.1470C>T (p.Asn490=) rs374657234
NM_004863.3(SPTLC2):c.414C>T (p.Ile138=) rs1364157223
NM_004863.3(SPTLC2):c.432C>T (p.Ala144=) rs139381733
NM_004863.3(SPTLC2):c.561A>G (p.Ser187=) rs143934634
NM_004863.3(SPTLC2):c.747T>C (p.Leu249=) rs148535125
NM_004863.3(SPTLC2):c.851-5T>C rs199867946
NM_004863.3(SPTLC2):c.900G>A (p.Gln300=) rs571524943

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.