ClinVar Miner

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

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Total variants: 66
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HGVS dbSNP
NC_000002.12:g.(?_165991225)_(166311776_?)del
NM_001365536.1(SCN9A):c.1129del (p.Thr377fs) rs1574873149
NM_001365536.1(SCN9A):c.1185C>A (p.Asn395Lys) rs80356471
NM_001365536.1(SCN9A):c.1185C>G (p.Asn395Lys) rs80356471
NM_001365536.1(SCN9A):c.1198G>A (p.Val400Met) rs1553491169
NM_001365536.1(SCN9A):c.1376C>G (p.Ser459Ter) rs121908908
NM_001365536.1(SCN9A):c.1567C>T (p.Arg523Ter)
NM_001365536.1(SCN9A):c.1642C>T (p.Arg548Ter) rs1057518900
NM_001365536.1(SCN9A):c.1766_1769del (p.Phe589fs) rs775868908
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg) rs201338643
NM_001365536.1(SCN9A):c.1867G>A (p.Asp623Asn) rs200398202
NM_001365536.1(SCN9A):c.1904C>G (p.Ser635Ter) rs1411870484
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr) rs121908918
NM_001365536.1(SCN9A):c.1979C>T (p.Thr660Met) rs200965749
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919
NM_001365536.1(SCN9A):c.2033del (p.Asp678fs) rs1574859556
NM_001365536.1(SCN9A):c.2109dup (p.Glu704Ter) rs779327684
NM_001365536.1(SCN9A):c.2141G>A (p.Trp714Ter) rs1057518162
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126
NM_001365536.1(SCN9A):c.2305_2323dup (p.Val775delinsAspTer) rs1553488759
NM_001365536.1(SCN9A):c.2331del (p.Ala777_Ile778insTer) rs1574856736
NM_001365536.1(SCN9A):c.2424G>A (p.Trp808Ter) rs769971743
NM_001365536.1(SCN9A):c.2454_2458del (p.Leu818fs) rs766212849
NM_001365536.1(SCN9A):c.2501T>G (p.Leu834Arg) rs80356473
NM_001365536.1(SCN9A):c.2503C>T (p.Arg835Ter) rs1329907808
NM_001365536.1(SCN9A):c.2521C>T (p.Arg841Ter) rs780673293
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr) rs80356474
NM_001365536.1(SCN9A):c.2577del (p.Ile859fs) rs753900410
NM_001365536.1(SCN9A):c.2605C>T (p.Leu869Phe) rs80356476
NM_001365536.1(SCN9A):c.2606T>A (p.Leu869His) rs80356475
NM_001365536.1(SCN9A):c.2620G>C (p.Ala874Pro) rs80356477
NM_001365536.1(SCN9A):c.2709del (p.Asp902_Cys903insTer)
NM_001365536.1(SCN9A):c.2723G>A (p.Trp908Ter) rs794729216
NM_001365536.1(SCN9A):c.2724G>A (p.Trp908Ter) rs121908909
NM_001365536.1(SCN9A):c.2984delinsCC (p.Ile995fs) rs1574844397
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys) rs121908910
NM_001365536.1(SCN9A):c.3187G>T (p.Gly1063Ter)
NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu) rs200817435
NM_001365536.1(SCN9A):c.3780G>A (p.Trp1260Ter)
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748
NM_001365536.1(SCN9A):c.3925G>T (p.Val1309Phe) rs121908912
NM_001365536.1(SCN9A):c.3926T>A (p.Val1309Asp) rs121908911
NM_001365536.1(SCN9A):c.3928G>T (p.Val1310Phe) rs121908913
NM_001365536.1(SCN9A):c.3995G>A (p.Trp1332Ter) rs1553479216
NM_001365536.1(SCN9A):c.4026delinsTT (p.Leu1342fs) rs606231279
NM_001365536.1(SCN9A):c.4364del (p.Val1455fs) rs1553478584
NM_001365536.1(SCN9A):c.4378T>G (p.Phe1460Val) rs80356478
NM_001365536.1(SCN9A):c.4415T>A (p.Ile1472Asn) rs121908914
NM_001365536.1(SCN9A):c.4415T>C (p.Ile1472Thr) rs121908914
NM_001365536.1(SCN9A):c.4417T>G (p.Phe1473Val) rs1553474394
NM_001365536.1(SCN9A):c.4424C>T (p.Thr1475Ile) rs121908915
NM_001365536.1(SCN9A):c.4495C>T (p.Arg1499Ter) rs187558439
NM_001365536.1(SCN9A):c.4503+1G>T rs746241591
NM_001365536.1(SCN9A):c.4510del (p.Ile1504fs)
NM_001365536.1(SCN9A):c.4733G>A (p.Trp1578Ter) rs200070962
NM_001365536.1(SCN9A):c.4819del (p.Thr1607fs)
NM_001365536.1(SCN9A):c.4868T>C (p.Leu1623Pro) rs1131691776
NM_001365536.1(SCN9A):c.4928C>A (p.Ala1643Glu) rs879253994
NM_001365536.1(SCN9A):c.5082del (p.Thr1695fs)
NM_001365536.1(SCN9A):c.5351del (p.Glu1784fs) rs1553473041
NM_001365536.1(SCN9A):c.984C>A (p.Tyr328Ter) rs121908917
NM_002977.3(SCN9A):c.966-2A>G rs1553492481
NM_002977.3(SCN9A):c.[2794A>C;2971G>T]

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