ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as uncertain significance for Generalized epilepsy with febrile seizures plus, type 7

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
Download table as spreadsheet
NM_001365536.1(SCN9A):c.1135A>G (p.Met379Val) rs544004654
NM_001365536.1(SCN9A):c.1280T>C (p.Leu427Ser) rs192406412
NM_001365536.1(SCN9A):c.1285C>T (p.Arg429Cys) rs763256222
NM_001365536.1(SCN9A):c.1314+1G>T rs1295192882
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572
NM_001365536.1(SCN9A):c.1744G>A (p.Glu582Lys) rs201391809
NM_001365536.1(SCN9A):c.1844A>G (p.Asn615Ser) rs780995899
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr) rs121908918
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919
NM_001365536.1(SCN9A):c.2219T>C (p.Ile740Thr)
NM_001365536.1(SCN9A):c.2351C>G (p.Thr784Ser) rs200624920
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) rs41268671
NM_001365536.1(SCN9A):c.3482G>A (p.Trp1161Ter) rs759003928
NM_001365536.1(SCN9A):c.4820C>T (p.Thr1607Ile) rs200470541
NM_001365536.1(SCN9A):c.5164C>T (p.Pro1722Ser)
NM_001365536.1(SCN9A):c.5704C>T (p.Arg1902Cys) rs200956485
NM_001365536.1(SCN9A):c.5750T>C (p.Ile1917Thr) rs200876442

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.