ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as pathogenic

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
Download table as spreadsheet
HGVS dbSNP
NM_002977.3(SCN9A):c.1129del (p.Thr377fs)
NM_002977.3(SCN9A):c.1185C>A (p.Asn395Lys) rs80356471
NM_002977.3(SCN9A):c.1185C>G (p.Asn395Lys) rs80356471
NM_002977.3(SCN9A):c.1376C>G (p.Ser459Ter) rs121908908
NM_002977.3(SCN9A):c.1642C>T (p.Arg548Ter) rs1057518900
NM_002977.3(SCN9A):c.1766_1769del (p.Phe589fs)
NM_002977.3(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_002977.3(SCN9A):c.1846G>A (p.Gly616Arg) rs201338643
NM_002977.3(SCN9A):c.1867G>A (p.Asp623Asn) rs200398202
NM_002977.3(SCN9A):c.1904C>G (p.Ser635Ter) rs1411870484
NM_002977.3(SCN9A):c.1921A>T (p.Asn641Tyr) rs121908918
NM_002977.3(SCN9A):c.1946C>T (p.Thr649Met) rs200965749
NM_002977.3(SCN9A):c.1964A>G (p.Lys655Arg) rs121908919
NM_002977.3(SCN9A):c.2000del (p.Asp667fs)
NM_002977.3(SCN9A):c.2076dup (p.Glu693Ter) rs779327684
NM_002977.3(SCN9A):c.2108G>A (p.Trp703Ter) rs1057518162
NM_002977.3(SCN9A):c.2159T>A (p.Ile720Lys) rs200945460
NM_002977.3(SCN9A):c.2215A>G (p.Ile739Val) rs182650126
NM_002977.3(SCN9A):c.2272_2290dup (p.Val764delinsAspTer) rs1553488759
NM_002977.3(SCN9A):c.2391G>A (p.Trp797Ter)
NM_002977.3(SCN9A):c.2421_2425del (p.Leu807fs) rs766212849
NM_002977.3(SCN9A):c.2468T>G (p.Leu823Arg) rs80356473
NM_002977.3(SCN9A):c.2470C>T (p.Arg824Ter)
NM_002977.3(SCN9A):c.2488C>T (p.Arg830Ter) rs780673293
NM_002977.3(SCN9A):c.2543T>C (p.Ile848Thr) rs80356474
NM_002977.3(SCN9A):c.2544del (p.Ile848fs) rs753900410
NM_002977.3(SCN9A):c.2572C>T (p.Leu858Phe) rs80356476
NM_002977.3(SCN9A):c.2573T>A (p.Leu858His) rs80356475
NM_002977.3(SCN9A):c.2587G>C (p.Ala863Pro) rs80356477
NM_002977.3(SCN9A):c.2690G>A (p.Trp897Ter) rs794729216
NM_002977.3(SCN9A):c.2691G>A (p.Trp897Ter) rs121908909
NM_002977.3(SCN9A):c.2951delinsCC (p.Ile984fs)
NM_002977.3(SCN9A):c.2969A>G (p.Tyr990Cys) rs199692186
NM_002977.3(SCN9A):c.2986C>T (p.Arg996Cys) rs121908910
NM_002977.3(SCN9A):c.3316G>T (p.Val1106Leu) rs200817435
NM_002977.3(SCN9A):c.3799C>G (p.Leu1267Val) rs180922748
NM_002977.3(SCN9A):c.3892G>T (p.Val1298Phe) rs121908912
NM_002977.3(SCN9A):c.3893T>A (p.Val1298Asp) rs121908911
NM_002977.3(SCN9A):c.3895G>T (p.Val1299Phe) rs121908913
NM_002977.3(SCN9A):c.3962G>A (p.Trp1321Ter) rs1553479216
NM_002977.3(SCN9A):c.3993delinsTT (p.Leu1331fs) rs606231279
NM_002977.3(SCN9A):c.4331del (p.Val1444fs) rs1553478584
NM_002977.3(SCN9A):c.4345T>G (p.Phe1449Val) rs80356478
NM_002977.3(SCN9A):c.4382T>A (p.Ile1461Asn) rs121908914
NM_002977.3(SCN9A):c.4382T>C (p.Ile1461Thr) rs121908914
NM_002977.3(SCN9A):c.4384T>G (p.Phe1462Val) rs1553474394
NM_002977.3(SCN9A):c.4391C>T (p.Thr1464Ile) rs121908915
NM_002977.3(SCN9A):c.4462C>T (p.Arg1488Ter) rs187558439
NM_002977.3(SCN9A):c.4470+1G>T rs746241591
NM_002977.3(SCN9A):c.4700G>A (p.Trp1567Ter) rs200070962
NM_002977.3(SCN9A):c.4835T>C (p.Leu1612Pro) rs1131691776
NM_002977.3(SCN9A):c.4895C>A (p.Ala1632Glu) rs879253994
NM_002977.3(SCN9A):c.5318del (p.Glu1773fs) rs1553473041
NM_002977.3(SCN9A):c.966-2A>G rs1553492481
NM_002977.3(SCN9A):c.984C>A (p.Tyr328Ter) rs121908917
NM_002977.3(SCN9A):c.[2794A>C;2971G>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.