ClinVar Miner

List of variants in gene combination GH-LCR, SCN4A reported as uncertain significance by Athena Diagnostics Inc

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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_000334.4(SCN4A):c.4282A>G (p.Ile1428Val) rs368822028 0.00009
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met) rs763827415 0.00008
NM_000334.4(SCN4A):c.2377-5C>T rs560170181 0.00004
NM_000334.4(SCN4A):c.2956G>A (p.Glu986Lys) rs369128679 0.00004
NM_000334.4(SCN4A):c.3871A>G (p.Ile1291Val) rs777298727 0.00004
NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser) rs766365683 0.00004
NM_000334.4(SCN4A):c.2260G>A (p.Val754Ile) rs747401713 0.00003
NM_000334.4(SCN4A):c.4303G>C (p.Asp1435His) rs776355318 0.00003
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys) rs758511540 0.00003
NM_000334.4(SCN4A):c.2207A>G (p.Asp736Gly) rs1397719163 0.00002
NM_000334.4(SCN4A):c.3622G>C (p.Glu1208Gln) rs754401226 0.00002
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550 0.00002
NM_000334.4(SCN4A):c.4949C>T (p.Pro1650Leu) rs774183791 0.00002
NM_000334.4(SCN4A):c.2083A>G (p.Asn695Asp) rs1327920743 0.00001
NM_000334.4(SCN4A):c.2411C>G (p.Ser804Cys) rs121908546 0.00001
NM_000334.4(SCN4A):c.2812G>A (p.Glu938Lys) rs374673348 0.00001
NM_000334.4(SCN4A):c.3181A>G (p.Ile1061Val) rs773489142 0.00001
NM_000334.4(SCN4A):c.3829A>T (p.Ile1277Phe) rs776750130 0.00001
NM_000334.4(SCN4A):c.4390G>A (p.Gly1464Arg) rs150423825 0.00001
NM_000334.4(SCN4A):c.4420G>A (p.Ala1474Thr) rs778417596 0.00001
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr) rs1318966106 0.00001
NM_000334.4(SCN4A):c.4791C>G (p.Ile1597Met) rs1567816199 0.00001
NM_000334.4(SCN4A):c.4804A>C (p.Asn1602His) rs1189124411 0.00001
NM_000334.4(SCN4A):c.5492T>A (p.Val1831Asp) rs1300925199 0.00001
NM_000334.4(SCN4A):c.2096C>A (p.Ala699Glu) rs1395381249
NM_000334.4(SCN4A):c.2101G>C (p.Gly701Arg) rs1909105377
NM_000334.4(SCN4A):c.2150T>C (p.Val717Ala) rs1567823095
NM_000334.4(SCN4A):c.2514C>T (p.Ala838=) rs2144787155
NM_000334.4(SCN4A):c.2578G>A (p.Glu860Lys) rs1346024466
NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del) rs776181227
NM_000334.4(SCN4A):c.3032A>G (p.Gln1011Arg) rs1555601881
NM_000334.4(SCN4A):c.3262G>A (p.Gly1088Ser) rs1282585219
NM_000334.4(SCN4A):c.3286G>C (p.Ala1096Pro) rs766002690
NM_000334.4(SCN4A):c.3336G>C (p.Leu1112Phe) rs764409572
NM_000334.4(SCN4A):c.3430G>A (p.Glu1144Lys) rs751443439
NM_000334.4(SCN4A):c.3466G>T (p.Ala1156Ser) rs80338958
NM_000334.4(SCN4A):c.3558C>A (p.Phe1186Leu) rs147610324
NM_000334.4(SCN4A):c.3696G>A (p.Leu1232=) rs2144779293
NM_000334.4(SCN4A):c.3932T>G (p.Phe1311Cys) rs1555601196
NM_000334.4(SCN4A):c.4031G>C (p.Gly1344Ala) rs371949054
NM_000334.4(SCN4A):c.4036G>A (p.Val1346Met) rs1555601054
NM_000334.4(SCN4A):c.4080G>T (p.Met1360Ile) rs774789710
NM_000334.4(SCN4A):c.4088T>A (p.Ile1363Asn) rs1567817027
NM_000334.4(SCN4A):c.4297C>T (p.Leu1433Phe)
NM_000334.4(SCN4A):c.4343G>T (p.Arg1448Leu) rs121908545
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His) rs748517635
NM_000334.4(SCN4A):c.4364T>G (p.Ile1455Ser) rs377176361
NM_000334.4(SCN4A):c.4465C>T (p.Leu1489Phe) rs1555600762
NM_000334.4(SCN4A):c.4481T>A (p.Phe1494Tyr)
NM_000334.4(SCN4A):c.4591G>A (p.Glu1531Lys) rs1555600732
NM_000334.4(SCN4A):c.4759C>T (p.Leu1587Phe) rs1567816227
NM_000334.4(SCN4A):c.4778A>T (p.Tyr1593Phe) rs1908530350
NM_000334.4(SCN4A):c.4825A>C (p.Ser1609Arg) rs1555600678
NM_000334.4(SCN4A):c.5051C>T (p.Thr1684Ile) rs541964442
NM_000334.4(SCN4A):c.5104G>A (p.Glu1702Lys) rs1555600605
NM_000334.4(SCN4A):c.5104GAG[1] (p.Glu1703del) rs1464481652
NM_000334.4(SCN4A):c.5105A>G (p.Glu1702Gly) rs1555600604
NM_000334.4(SCN4A):c.5162C>T (p.Thr1721Ile) rs1172419975
NM_000334.4(SCN4A):c.5172G>A (p.Arg1724=)
NM_000334.4(SCN4A):c.5229A>G (p.Leu1743=) rs1908508905

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