ClinVar Miner

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

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Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val) rs182650126 0.00278
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186 0.00056
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460 0.00019
NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg) rs201338643 0.00014
NM_001365536.1(SCN9A):c.3349G>T (p.Val1117Leu) rs200817435 0.00009
NM_001365536.1(SCN9A):c.902-2A>C rs773824421 0.00005
NM_001365536.1(SCN9A):c.1979C>T (p.Thr660Met) rs200965749 0.00004
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp) rs202152511 0.00004
NM_001365536.1(SCN9A):c.1567C>T (p.Arg523Ter) rs202211795 0.00002
NM_001365536.1(SCN9A):c.1642C>T (p.Arg548Ter) rs1057518900 0.00001
NM_001365536.1(SCN9A):c.1904C>G (p.Ser635Ter) rs1411870484 0.00001
NM_001365536.1(SCN9A):c.2503C>T (p.Arg835Ter) rs1329907808 0.00001
NM_001365536.1(SCN9A):c.2521C>T (p.Arg841Ter) rs780673293 0.00001
NM_001365536.1(SCN9A):c.2720G>A (p.Arg907Gln) rs1024152367 0.00001
NM_001365536.1(SCN9A):c.2723G>A (p.Trp908Ter) rs794729216 0.00001
NM_001365536.1(SCN9A):c.4828C>T (p.Arg1610Ter) rs775654130 0.00001
NM_001365536.1(SCN9A):c.5008A>T (p.Lys1670Ter) rs751948774 0.00001
NM_001365536.1(SCN9A):c.5351del (p.Glu1784fs) rs1553473041 0.00001
NM_001365536.1(SCN9A):c.984C>A (p.Tyr328Ter) rs121908917 0.00001
NC_000002.11:g.(?_166847749)_(167060980_?)del
NC_000002.11:g.(?_166895913)_(167145173_?)del
NC_000002.12:g.(?_165991225)_(166311776_?)del
NM_001365536.1(SCN9A):c.1108-2A>G rs2106493110
NM_001365536.1(SCN9A):c.1124_1126delinsCC (p.Gly375fs)
NM_001365536.1(SCN9A):c.1129del (p.Thr377fs) rs1574873149
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.1344_1345dup (p.Ser449fs)
NM_001365536.1(SCN9A):c.1376C>G (p.Ser459Ter) rs121908908
NM_001365536.1(SCN9A):c.1497del (p.Lys499fs) rs2106487245
NM_001365536.1(SCN9A):c.1502C>A (p.Ser501Ter) rs751421307
NM_001365536.1(SCN9A):c.1528A>T (p.Arg510Ter)
NM_001365536.1(SCN9A):c.1528del (p.Arg510fs)
NM_001365536.1(SCN9A):c.1635del (p.Ala546fs)
NM_001365536.1(SCN9A):c.1678_1679insCT (p.Arg560fs) rs1697657932
NM_001365536.1(SCN9A):c.1766_1769del (p.Phe589fs) rs775868908
NM_001365536.1(SCN9A):c.1789C>T (p.Arg597Ter)
NM_001365536.1(SCN9A):c.1867G>A (p.Asp623Asn) rs200398202
NM_001365536.1(SCN9A):c.2033del (p.Asp678fs) rs1574859556
NM_001365536.1(SCN9A):c.2064_2065del (p.Arg688fs)
NM_001365536.1(SCN9A):c.2109dup (p.Glu704Ter) rs779327684
NM_001365536.1(SCN9A):c.2139G>A (p.Trp713Ter)
NM_001365536.1(SCN9A):c.2141G>A (p.Trp714Ter) rs1057518162
NM_001365536.1(SCN9A):c.2204del (p.Lys735fs) rs1297421890
NM_001365536.1(SCN9A):c.2217dup (p.Ile740fs)
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.2395dup (p.Asp799fs) rs1697325895
NM_001365536.1(SCN9A):c.2409T>A (p.Tyr803Ter) rs142219317
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.2507C>A (p.Ser836Ter) rs2106471095
NM_001365536.1(SCN9A):c.2576T>C (p.Ile859Thr) rs80356474
NM_001365536.1(SCN9A):c.2577del (p.Ile859fs) rs753900410
NM_001365536.1(SCN9A):c.2599G>C (p.Gly867Arg) rs1697277352
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.2667dup (p.Lys890Ter) rs2106469123
NM_001365536.1(SCN9A):c.2709del (p.Asp902_Cys903insTer) rs1697271674
NM_001365536.1(SCN9A):c.2724G>A (p.Trp908Ter) rs121908909
NM_001365536.1(SCN9A):c.2941G>T (p.Glu981Ter)
NM_001365536.1(SCN9A):c.2984_2985insC (p.Ile995_Lys996insTer) rs2106461311
NM_001365536.1(SCN9A):c.2984delinsCC (p.Ile995fs) rs1574844397
NM_001365536.1(SCN9A):c.3019C>T (p.Arg1007Cys) rs121908910
NM_001365536.1(SCN9A):c.3096del (p.Lys1033fs) rs2106460925
NM_001365536.1(SCN9A):c.3183_3199del (p.Phe1062fs) rs1317855790
NM_001365536.1(SCN9A):c.3187G>T (p.Gly1063Ter) rs1553486684
NM_001365536.1(SCN9A):c.3352-1G>A rs2106426576
NM_001365536.1(SCN9A):c.3452dup (p.Glu1152fs) rs2106426285
NM_001365536.1(SCN9A):c.3536G>A (p.Trp1179Ter)
NM_001365536.1(SCN9A):c.3550del (p.Thr1184fs)
NM_001365536.1(SCN9A):c.3587del (p.Ser1196fs)
NM_001365536.1(SCN9A):c.3736_3739dup (p.Ala1247fs)
NM_001365536.1(SCN9A):c.3780G>A (p.Trp1260Ter) rs1553481071
NM_001365536.1(SCN9A):c.3801+1G>A rs2106403305
NM_001365536.1(SCN9A):c.3818del (p.Thr1272_Leu1273insTer) rs1344477568
NM_001365536.1(SCN9A):c.3884del (p.Ala1294_Leu1295insTer)
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.3996G>A (p.Trp1332Ter)
NM_001365536.1(SCN9A):c.4026delinsTT (p.Leu1342fs) rs606231279
NM_001365536.1(SCN9A):c.4048T>C (p.Cys1350Arg) rs1323162486
NM_001365536.1(SCN9A):c.4084del (p.Ser1362fs)
NM_001365536.1(SCN9A):c.4141C>T (p.Arg1381Ter)
NM_001365536.1(SCN9A):c.4195_4196del (p.Leu1399fs) rs2106387246
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.4500del (p.Asn1502fs) rs1693691531
NM_001365536.1(SCN9A):c.4510del (p.Ile1504fs) rs1693682030
NM_001365536.1(SCN9A):c.4733G>A (p.Trp1578Ter) rs200070962
NM_001365536.1(SCN9A):c.4740_4743dup (p.Asp1582delinsPheTer) rs2106346033
NM_001365536.1(SCN9A):c.4819del (p.Thr1607fs) rs1693396597
NM_001365536.1(SCN9A):c.4855C>T (p.Arg1619Ter) rs779609081
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.5004T>A (p.Tyr1668Ter) rs1693383784
NM_001365536.1(SCN9A):c.5004T>G (p.Tyr1668Ter) rs1693383784
NM_001365536.1(SCN9A):c.5082del (p.Thr1695fs) rs1320568689
NM_001365536.1(SCN9A):c.5100G>A (p.Trp1700Ter) rs1553473186
NM_001365536.1(SCN9A):c.915C>A (p.Tyr305Ter) rs2106506584
NM_001365536.1(SCN9A):c.966-2A>G rs1553492481
NM_001365536.1(SCN9A):c.966-2_972del
NM_002977.3(SCN9A):c.[2794A>C;2971G>T]

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