ClinVar Miner

List of variants reported as likely pathogenic for Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
Download table as spreadsheet
HGVS dbSNP
NM_001365536.1(SCN9A):c.1198G>A (p.Val400Met) rs1553491169
NM_001365536.1(SCN9A):c.1314+1G>T rs1295192882
NM_001365536.1(SCN9A):c.258+1G>A rs755067851
NM_001365536.1(SCN9A):c.2720G>A (p.Arg907Gln)
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys) rs121908910
NM_001365536.1(SCN9A):c.3925-2A>G
NM_001365536.1(SCN9A):c.4399-1C>T rs1283839545
NM_001365536.1(SCN9A):c.4503+1G>A rs746241591
NM_001365536.1(SCN9A):c.4503+1G>T rs746241591
NM_001365536.1(SCN9A):c.5876A>C (p.Asp1959Ala) rs1060502047
NM_001365536.1(SCN9A):c.902-2A>C rs773824421
NM_001365536.1(SCN9A):c.965+1G>T

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.