ClinVar Miner

List of variants in gene SCN11A reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001349253.2(SCN11A):c.494_501dup (p.Gly168fs) rs780673867 0.00031
NM_001349253.2(SCN11A):c.1730C>T (p.Pro577Leu) rs374524879 0.00023
NM_001349253.2(SCN11A):c.3014G>A (p.Trp1005Ter) rs41285132 0.00005
NM_001349253.2(SCN11A):c.2404-5C>A rs751257954 0.00004
NM_001349253.2(SCN11A):c.3916G>A (p.Val1306Ile) rs763336682 0.00003
NM_001349253.2(SCN11A):c.1765A>G (p.Ile589Val) rs1050521607 0.00002
NM_001349253.2(SCN11A):c.3466C>T (p.Arg1156Cys) rs571721216 0.00002
NM_001349253.2(SCN11A):c.4380G>A (p.Thr1460=) rs777033605 0.00002
NM_001349253.2(SCN11A):c.4432C>T (p.Arg1478Trp) rs868074183 0.00001
NM_001349253.2(SCN11A):c.941G>T (p.Gly314Val) rs201513140 0.00001
NM_001349253.2(SCN11A):c.134_136del (p.Gly45del) rs768121531
NM_001349253.2(SCN11A):c.136G>A (p.Glu46Lys) rs1057519187
NM_001349253.2(SCN11A):c.1498C>T (p.Arg500Ter) rs367770852
NM_001349253.2(SCN11A):c.1817AGA[1] (p.Lys607del) rs1418284178
NM_001349253.2(SCN11A):c.2452G>T (p.Glu818Ter)
NM_001349253.2(SCN11A):c.4427T>C (p.Leu1476Pro) rs2064696777
NM_001349253.2(SCN11A):c.4592T>C (p.Ile1531Thr) rs2064692341
NM_001349253.2(SCN11A):c.5357G>A (p.Gly1786Asp)
NM_001349253.2(SCN11A):c.595G>A (p.Asp199Asn) rs1553641548
NM_001349253.2(SCN11A):c.960-2A>G

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.