ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as likely benign for Hereditary sensory and autonomic neuropathy type IIA; Generalized epilepsy with febrile seizures plus, type 7

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Gene type:
ClinVar version:
Total variants: 256
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HGVS dbSNP
NM_001365536.1(SCN9A):c.1026G>A (p.Thr342=) rs146026200
NM_001365536.1(SCN9A):c.1053C>T (p.Phe351=)
NM_001365536.1(SCN9A):c.1101C>T (p.Tyr367=)
NM_001365536.1(SCN9A):c.1107+7A>G rs199623041
NM_001365536.1(SCN9A):c.1108-5C>T rs201496520
NM_001365536.1(SCN9A):c.1109C>T (p.Thr370Met) rs200391162
NM_001365536.1(SCN9A):c.1110G>A (p.Thr370=) rs202002028
NM_001365536.1(SCN9A):c.1113G>A (p.Leu371=) rs1260914439
NM_001365536.1(SCN9A):c.1135A>G (p.Met379Val) rs544004654
NM_001365536.1(SCN9A):c.1146T>C (p.Phe382=) rs1333471270
NM_001365536.1(SCN9A):c.1149C>T (p.Val383=) rs794726989
NM_001365536.1(SCN9A):c.1158T>A (p.Ile386=) rs200963646
NM_001365536.1(SCN9A):c.1161C>T (p.Phe387=)
NM_001365536.1(SCN9A):c.1167C>A (p.Gly389=)
NM_001365536.1(SCN9A):c.1177C>T (p.Leu393=) rs184773311
NM_001365536.1(SCN9A):c.1185C>T (p.Asn395=) rs80356471
NM_001365536.1(SCN9A):c.1277T>A (p.Met426Lys) rs200415928
NM_001365536.1(SCN9A):c.1347T>C (p.Ser449=) rs201990547
NM_001365536.1(SCN9A):c.1353G>A (p.Arg451=)
NM_001365536.1(SCN9A):c.1365T>C (p.Ile455=)
NM_001365536.1(SCN9A):c.1398C>A (p.Ser466=)
NM_001365536.1(SCN9A):c.1443G>A (p.Lys481=) rs1574868048
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) rs200682458
NM_001365536.1(SCN9A):c.1503G>A (p.Ser501=) rs766468627
NM_001365536.1(SCN9A):c.1515A>G (p.Ser505=)
NM_001365536.1(SCN9A):c.1554C>T (p.Val518=) rs201054032
NM_001365536.1(SCN9A):c.1555G>A (p.Glu519Lys) rs187453572
NM_001365536.1(SCN9A):c.1566G>A (p.Arg522=) rs1340370507
NM_001365536.1(SCN9A):c.1581G>A (p.Lys527=) rs1212310519
NM_001365536.1(SCN9A):c.1585T>C (p.Leu529=)
NM_001365536.1(SCN9A):c.1611C>T (p.Leu537=)
NM_001365536.1(SCN9A):c.1619G>A (p.Arg540His) rs199748300
NM_001365536.1(SCN9A):c.1626C>G (p.Ser542=) rs745771046
NM_001365536.1(SCN9A):c.1665T>C (p.Phe555=)
NM_001365536.1(SCN9A):c.1695A>G (p.Gly565=) rs1574864584
NM_001365536.1(SCN9A):c.1713C>T (p.Ala571=) rs200876333
NM_001365536.1(SCN9A):c.1755G>A (p.Arg585=) rs201643504
NM_001365536.1(SCN9A):c.1776C>T (p.His592=)
NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His) rs201318927
NM_001365536.1(SCN9A):c.1815C>T (p.Ala605=)
NM_001365536.1(SCN9A):c.1818T>C (p.Ser606=) rs202141567
NM_001365536.1(SCN9A):c.1845C>T (p.Asn615=) rs199827752
NM_001365536.1(SCN9A):c.1866G>A (p.Val622=)
NM_001365536.1(SCN9A):c.1875C>T (p.Asn625=)
NM_001365536.1(SCN9A):c.1890G>T (p.Leu630=) rs752930812
NM_001365536.1(SCN9A):c.1905A>G (p.Ser635=)
NM_001365536.1(SCN9A):c.1975-12_1975-11dup rs35888674
NM_001365536.1(SCN9A):c.1975-12_1975-5dup rs35888674
NM_001365536.1(SCN9A):c.1975-8T>A rs752961542
NM_001365536.1(SCN9A):c.1975-9T>G
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315
NM_001365536.1(SCN9A):c.2005C>T (p.Arg669Cys) rs200174262
NM_001365536.1(SCN9A):c.2006G>A (p.Arg669His) rs200374987
NM_001365536.1(SCN9A):c.2052C>T (p.Asn684=)
NM_001365536.1(SCN9A):c.2133A>C (p.Pro711=) rs1574857355
NM_001365536.1(SCN9A):c.2146A>C (p.Arg716=)
NM_001365536.1(SCN9A):c.2165T>C (p.Leu722Ser) rs187526567
NM_001365536.1(SCN9A):c.2271C>T (p.Asn757=)
NM_001365536.1(SCN9A):c.2277A>G (p.Leu759=)
NM_001365536.1(SCN9A):c.2286T>C (p.Ala762=)
NM_001365536.1(SCN9A):c.2295C>T (p.His765=)
NM_001365536.1(SCN9A):c.2316C>T (p.Phe772=)
NM_001365536.1(SCN9A):c.2343+9C>T rs190068937
NM_001365536.1(SCN9A):c.2352T>C (p.Thr784=) rs1574853796
NM_001365536.1(SCN9A):c.2391C>A (p.Ala797=)
NM_001365536.1(SCN9A):c.2461G>A (p.Val821Met) rs41268671
NM_001365536.1(SCN9A):c.2475A>G (p.Leu825=) rs1574853488
NM_001365536.1(SCN9A):c.2496A>C (p.Ser832=) rs200185692
NM_001365536.1(SCN9A):c.2554T>C (p.Leu852=) rs1261810400
NM_001365536.1(SCN9A):c.2556G>A (p.Leu852=) rs754155029
NM_001365536.1(SCN9A):c.2595T>A (p.Ala865=) rs1574851833
NM_001365536.1(SCN9A):c.2616G>A (p.Val872=) rs1574851774
NM_001365536.1(SCN9A):c.2628C>T (p.Ile876=)
NM_001365536.1(SCN9A):c.2634C>T (p.Phe878=) rs188678956
NM_001365536.1(SCN9A):c.2649C>T (p.Val883=) rs200618289
NM_001365536.1(SCN9A):c.2658G>A (p.Gln886=)
NM_001365536.1(SCN9A):c.2676C>T (p.Tyr892=) rs980034038
NM_001365536.1(SCN9A):c.2691C>T (p.Cys897=) rs1060504427
NM_001365536.1(SCN9A):c.2712G>A (p.Thr904=) rs200494981
NM_001365536.1(SCN9A):c.2718A>G (p.Pro906=)
NM_001365536.1(SCN9A):c.2727C>T (p.His909=)
NM_001365536.1(SCN9A):c.2814C>T (p.Val938=)
NM_001365536.1(SCN9A):c.2852T>C (p.Val951Ala) rs201890077
NM_001365536.1(SCN9A):c.2853C>T (p.Val951=) rs764006250
NM_001365536.1(SCN9A):c.2880A>C (p.Leu960=)
NM_001365536.1(SCN9A):c.2901A>G (p.Leu967=)
NM_001365536.1(SCN9A):c.2931A>G (p.Thr977=)
NM_001365536.1(SCN9A):c.2952T>C (p.Asp984=)
NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=) rs201430964
NM_001365536.1(SCN9A):c.2973A>G (p.Ala991=)
NM_001365536.1(SCN9A):c.2994A>C (p.Gly998=) rs1574844351
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186
NM_001365536.1(SCN9A):c.3003T>C (p.Tyr1001=) rs886038521
NM_001365536.1(SCN9A):c.3009A>G (p.Lys1003=)
NM_001365536.1(SCN9A):c.3015C>T (p.Thr1005=)
NM_001365536.1(SCN9A):c.3020G>A (p.Arg1007His) rs188145203
NM_001365536.1(SCN9A):c.3088C>T (p.Leu1030=)
NM_001365536.1(SCN9A):c.3089T>C (p.Leu1030Pro) rs200958860
NM_001365536.1(SCN9A):c.3141C>T (p.Ser1047=) rs1046258167
NM_001365536.1(SCN9A):c.3153T>C (p.Asn1051=)
NM_001365536.1(SCN9A):c.3167A>G (p.Lys1056Arg) rs200560768
NM_001365536.1(SCN9A):c.3207C>T (p.His1069=) rs200689065
NM_001365536.1(SCN9A):c.3217G>A (p.Asp1073Asn) rs201389358
NM_001365536.1(SCN9A):c.3228T>A (p.Gly1076=) rs200393050
NM_001365536.1(SCN9A):c.3234A>G (p.Ser1078=)
NM_001365536.1(SCN9A):c.3282G>A (p.Gly1094=)
NM_001365536.1(SCN9A):c.3285A>G (p.Glu1095=)
NM_001365536.1(SCN9A):c.3302T>G (p.Met1101Arg) rs200866100
NM_001365536.1(SCN9A):c.3327T>C (p.Asp1109=)
NM_001365536.1(SCN9A):c.3329C>T (p.Ser1110Leu) rs145258166
NM_001365536.1(SCN9A):c.3330G>A (p.Ser1110=)
NM_001365536.1(SCN9A):c.3343A>G (p.Ser1115Gly) rs201984007
NM_001365536.1(SCN9A):c.3362G>C (p.Arg1121Pro) rs74401238
NM_001365536.1(SCN9A):c.3372C>T (p.Ser1124=)
NM_001365536.1(SCN9A):c.3381C>T (p.Cys1127=)
NM_001365536.1(SCN9A):c.3403C>T (p.Pro1135Ser) rs184563685
NM_001365536.1(SCN9A):c.3456G>A (p.Glu1152=)
NM_001365536.1(SCN9A):c.3467C>T (p.Thr1156Ile) rs765515813
NM_001365536.1(SCN9A):c.3472+7C>A rs1458073270
NM_001365536.1(SCN9A):c.3489C>T (p.Phe1163=)
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr) rs73019664
NM_001365536.1(SCN9A):c.3540C>T (p.Asn1180=) rs766241126
NM_001365536.1(SCN9A):c.3597C>A (p.Val1199=) rs775344750
NM_001365536.1(SCN9A):c.3612C>T (p.Leu1204=) rs1408476498
NM_001365536.1(SCN9A):c.3738A>C (p.Ile1246=)
NM_001365536.1(SCN9A):c.3741A>T (p.Ala1247=)
NM_001365536.1(SCN9A):c.3759T>C (p.Tyr1253=) rs201640757
NM_001365536.1(SCN9A):c.3781C>T (p.Leu1261=) rs1574780648
NM_001365536.1(SCN9A):c.3801T>C (p.Asp1267=) rs202047865
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748
NM_001365536.1(SCN9A):c.3840C>T (p.Tyr1280=)
NM_001365536.1(SCN9A):c.3855C>T (p.Pro1285=)
NM_001365536.1(SCN9A):c.3903A>G (p.Leu1301=)
NM_001365536.1(SCN9A):c.3925-4C>T rs1574762082
NM_001365536.1(SCN9A):c.3975A>G (p.Leu1325=) rs199988325
NM_001365536.1(SCN9A):c.3997C>T (p.Leu1333=) rs1553479207
NM_001365536.1(SCN9A):c.4047G>A (p.Glu1349=)
NM_001365536.1(SCN9A):c.4059C>T (p.Thr1353=)
NM_001365536.1(SCN9A):c.4062A>G (p.Thr1354=)
NM_001365536.1(SCN9A):c.4073G>A (p.Arg1358Gln) rs200163716
NM_001365536.1(SCN9A):c.4077T>C (p.Phe1359=) rs1205678504
NM_001365536.1(SCN9A):c.4100G>A (p.Arg1367His) rs200566017
NM_001365536.1(SCN9A):c.4140G>A (p.Val1380=) rs1553479103
NM_001365536.1(SCN9A):c.4143A>G (p.Arg1381=) rs200610689
NM_001365536.1(SCN9A):c.4164C>T (p.Asn1388=)
NM_001365536.1(SCN9A):c.4170T>C (p.Asp1390=)
NM_001365536.1(SCN9A):c.4197G>A (p.Leu1399=) rs201258222
NM_001365536.1(SCN9A):c.4206+9C>T
NM_001365536.1(SCN9A):c.4207-5T>C
NM_001365536.1(SCN9A):c.4207-8T>C
NM_001365536.1(SCN9A):c.4209A>G (p.Ala1403=) rs1553478842
NM_001365536.1(SCN9A):c.4227G>A (p.Thr1409=) rs970261148
NM_001365536.1(SCN9A):c.4245A>C (p.Ala1415=)
NM_001365536.1(SCN9A):c.4261-7T>G
NM_001365536.1(SCN9A):c.4275C>A (p.Pro1425=) rs202040787
NM_001365536.1(SCN9A):c.4293C>T (p.Leu1431=) rs777397007
NM_001365536.1(SCN9A):c.4305T>G (p.Ile1435Met) rs200479892
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) rs149346064
NM_001365536.1(SCN9A):c.4317C>T (p.Val1439=) rs766643885
NM_001365536.1(SCN9A):c.4365C>T (p.Val1455=)
NM_001365536.1(SCN9A):c.4368C>T (p.Ile1456=)
NM_001365536.1(SCN9A):c.4374T>C (p.Asp1458=)
NM_001365536.1(SCN9A):c.4398+7A>G rs1574756110
NM_001365536.1(SCN9A):c.4399-10G>A
NM_001365536.1(SCN9A):c.4399-6C>A rs1553474406
NM_001365536.1(SCN9A):c.4399-6_4399-3del
NM_001365536.1(SCN9A):c.4413C>T (p.Asp1471=) rs727504144
NM_001365536.1(SCN9A):c.4416C>T (p.Ile1472=)
NM_001365536.1(SCN9A):c.4452A>C (p.Ala1484=)
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) rs187558439
NM_001365536.1(SCN9A):c.4503+3dup rs759871579
NM_001365536.1(SCN9A):c.4503+8A>T
NM_001365536.1(SCN9A):c.4503+8_4503+9insT rs767624579
NM_001365536.1(SCN9A):c.4503+9del rs759871579
NM_001365536.1(SCN9A):c.4533A>G (p.Leu1511=) rs545627123
NM_001365536.1(SCN9A):c.4545A>G (p.Gln1515=) rs1298398772
NM_001365536.1(SCN9A):c.4563C>A (p.Ile1521=)
NM_001365536.1(SCN9A):c.4593C>A (p.Thr1531=)
NM_001365536.1(SCN9A):c.4614T>C (p.Gly1538=) rs1250627204
NM_001365536.1(SCN9A):c.4644T>C (p.Tyr1548=)
NM_001365536.1(SCN9A):c.4645T>A (p.Trp1549Arg)
NM_001365536.1(SCN9A):c.4656G>T (p.Val1552=)
NM_001365536.1(SCN9A):c.4665A>C (p.Ile1555=)
NM_001365536.1(SCN9A):c.4668C>A (p.Ile1556=)
NM_001365536.1(SCN9A):c.4677T>C (p.Thr1559=) rs773380999
NM_001365536.1(SCN9A):c.4686T>C (p.Cys1562=) rs201655242
NM_001365536.1(SCN9A):c.4701C>T (p.Ile1567=) rs201067234
NM_001365536.1(SCN9A):c.4704C>T (p.Ser1568=) rs1299193372
NM_001365536.1(SCN9A):c.4707C>T (p.Leu1569=) rs745837064
NM_001365536.1(SCN9A):c.4728A>G (p.Val1576=)
NM_001365536.1(SCN9A):c.4767C>T (p.Ser1589=) rs200690956
NM_001365536.1(SCN9A):c.4775-4A>G
NM_001365536.1(SCN9A):c.4824G>T (p.Leu1608=)
NM_001365536.1(SCN9A):c.4827C>T (p.Phe1609=) rs760606370
NM_001365536.1(SCN9A):c.4848G>A (p.Arg1616=) rs1574693824
NM_001365536.1(SCN9A):c.4863A>C (p.Leu1621=)
NM_001365536.1(SCN9A):c.4866T>A (p.Arg1622=)
NM_001365536.1(SCN9A):c.4881A>G (p.Ala1627=)
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=) rs199550149
NM_001365536.1(SCN9A):c.4923T>G (p.Leu1641=)
NM_001365536.1(SCN9A):c.4929G>C (p.Ala1643=)
NM_001365536.1(SCN9A):c.4930T>C (p.Leu1644=)
NM_001365536.1(SCN9A):c.4932G>A (p.Leu1644=)
NM_001365536.1(SCN9A):c.4935T>C (p.Phe1645=)
NM_001365536.1(SCN9A):c.4941C>T (p.Ile1647=) rs747837371
NM_001365536.1(SCN9A):c.4947C>T (p.Leu1649=)
NM_001365536.1(SCN9A):c.4950G>C (p.Leu1650=)
NM_001365536.1(SCN9A):c.4959G>T (p.Leu1653=) rs768193278
NM_001365536.1(SCN9A):c.4968C>T (p.Phe1656=) rs779521437
NM_001365536.1(SCN9A):c.4974C>T (p.Tyr1658=) rs757858235
NM_001365536.1(SCN9A):c.4986A>G (p.Gly1662=)
NM_001365536.1(SCN9A):c.5010A>G (p.Lys1670=) rs764559105
NM_001365536.1(SCN9A):c.5019T>C (p.Asp1673=) rs752918053
NM_001365536.1(SCN9A):c.5028T>C (p.Asn1676=) rs1553473212
NM_001365536.1(SCN9A):c.5049C>T (p.Thr1683=)
NM_001365536.1(SCN9A):c.5139C>A (p.Pro1713=)
NM_001365536.1(SCN9A):c.5142C>T (p.Asp1714=)
NM_001365536.1(SCN9A):c.5220T>C (p.Phe1740=) rs200817449
NM_001365536.1(SCN9A):c.5256G>C (p.Val1752=)
NM_001365536.1(SCN9A):c.5256G>T (p.Val1752=)
NM_001365536.1(SCN9A):c.5304A>G (p.Glu1768=)
NM_001365536.1(SCN9A):c.5334C>T (p.Asp1778=) rs201196474
NM_001365536.1(SCN9A):c.5349T>C (p.Tyr1783=) rs199696636
NM_001365536.1(SCN9A):c.5373C>T (p.Pro1791=)
NM_001365536.1(SCN9A):c.5379G>A (p.Ala1793=) rs201875421
NM_001365536.1(SCN9A):c.5487C>A (p.Pro1829=) rs751325279
NM_001365536.1(SCN9A):c.5493T>G (p.Val1831=) rs1261742033
NM_001365536.1(SCN9A):c.5508C>A (p.Ile1836=) rs747340707
NM_001365536.1(SCN9A):c.5586G>A (p.Gln1862=) rs199572382
NM_001365536.1(SCN9A):c.5649A>G (p.Thr1883=) rs1574691120
NM_001365536.1(SCN9A):c.5664A>G (p.Gln1888=) rs367719041
NM_001365536.1(SCN9A):c.5697T>C (p.Ala1899=) rs1338674674
NM_001365536.1(SCN9A):c.5704C>T (p.Arg1902Cys) rs200956485
NM_001365536.1(SCN9A):c.5724T>C (p.Asn1908=)
NM_001365536.1(SCN9A):c.5748C>T (p.Tyr1916=)
NM_001365536.1(SCN9A):c.5791G>C (p.Asp1931His) rs200410805
NM_001365536.1(SCN9A):c.5799T>C (p.Ala1933=)
NM_001365536.1(SCN9A):c.5850A>C (p.Ser1950=)
NM_001365536.1(SCN9A):c.5868T>A (p.Pro1956=)
NM_001365536.1(SCN9A):c.5880T>C (p.Ser1960=) rs773385236
NM_001365536.1(SCN9A):c.5907T>C (p.Tyr1969=)
NM_001365536.1(SCN9A):c.5916C>T (p.Asp1972=) rs1553472678
NM_001365536.1(SCN9A):c.5928G>A (p.Lys1976=)
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val) rs199822303
NM_001365536.1(SCN9A):c.5949C>G (p.Ser1983Arg) rs201640210
NM_001365536.1(SCN9A):c.906T>C (p.Tyr302=)
NM_001365536.1(SCN9A):c.924A>T (p.Gly308=)
NM_001365536.1(SCN9A):c.933T>C (p.Asp311=) rs1553492770
NM_001365536.1(SCN9A):c.957A>G (p.Thr319=) rs1574885699
NM_001365536.1(SCN9A):c.965+10A>G rs202185010
NM_001365536.1(SCN9A):c.966-8G>A rs199942413
NM_001365536.1(SCN9A):c.966-8G>C
NM_001365536.1(SCN9A):c.966-8G>T
NM_001365536.1(SCN9A):c.978G>A (p.Glu326=)
NM_001365536.1(SCN9A):c.981G>A (p.Gly327=)
NM_001365536.1(SCN9A):c.990T>C (p.Cys330=) rs1384436013

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