ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 113
Download table as spreadsheet
HGVS dbSNP
NM_000334.4(SCN4A):c.2054C>T (p.Thr685Met)
NM_000334.4(SCN4A):c.2083A>G (p.Asn695Asp) rs1327920743
NM_000334.4(SCN4A):c.2096C>T (p.Ala699Val) rs1395381249
NM_000334.4(SCN4A):c.2200G>T (p.Ala734Ser) rs199651516
NM_000334.4(SCN4A):c.2290G>A (p.Glu764Lys) rs1403270355
NM_000334.4(SCN4A):c.2362A>G (p.Ile788Val)
NM_000334.4(SCN4A):c.2375T>G (p.Val792Gly)
NM_000334.4(SCN4A):c.2386C>G (p.Leu796Val) rs750053946
NM_000334.4(SCN4A):c.2391C>G (p.Phe797Leu) rs1253601722
NM_000334.4(SCN4A):c.2419G>A (p.Ala807Thr)
NM_000334.4(SCN4A):c.2468A>C (p.Gln823Pro)
NM_000334.4(SCN4A):c.2479G>A (p.Gly827Arg)
NM_000334.4(SCN4A):c.2563A>G (p.Met855Val) rs372019457
NM_000334.4(SCN4A):c.2564T>C (p.Met855Thr) rs1346442665
NM_000334.4(SCN4A):c.2585_2602del (p.Asp862_Ala867del) rs776181227
NM_000334.4(SCN4A):c.2662A>C (p.Lys888Gln) rs202155883
NM_000334.4(SCN4A):c.2675A>G (p.His892Arg)
NM_000334.4(SCN4A):c.2693G>A (p.Gly898Asp)
NM_000334.4(SCN4A):c.2704G>A (p.Gly902Ser) rs200517944
NM_000334.4(SCN4A):c.2711C>G (p.Pro904Arg)
NM_000334.4(SCN4A):c.2729A>T (p.Asp910Val)
NM_000334.4(SCN4A):c.2747A>G (p.Asn916Ser) rs767053007
NM_000334.4(SCN4A):c.2773C>T (p.Pro925Ser) rs1567820767
NM_000334.4(SCN4A):c.2794G>A (p.Asp932Asn) rs199656266
NM_000334.4(SCN4A):c.2795A>C (p.Asp932Ala)
NM_000334.4(SCN4A):c.2824G>A (p.Asp942Asn) rs761589948
NM_000334.4(SCN4A):c.2920G>A (p.Glu974Lys)
NM_000334.4(SCN4A):c.2992T>C (p.Cys998Arg) rs1555601897
NM_000334.4(SCN4A):c.3002G>A (p.Arg1001His)
NM_000334.4(SCN4A):c.3004T>C (p.Trp1002Arg)
NM_000334.4(SCN4A):c.3058C>G (p.Leu1020Val) rs371779795
NM_000334.4(SCN4A):c.3065G>A (p.Arg1022Lys) rs1285110954
NM_000334.4(SCN4A):c.3136G>T (p.Gly1046Trp) rs759982229
NM_000334.4(SCN4A):c.3176G>A (p.Arg1059Gln) rs749433088
NM_000334.4(SCN4A):c.3185G>C (p.Arg1062Pro) rs769704334
NM_000334.4(SCN4A):c.3238A>G (p.Met1080Val)
NM_000334.4(SCN4A):c.3359C>T (p.Ser1120Leu) rs1314399622
NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln) rs527236149
NM_000334.4(SCN4A):c.3425G>A (p.Arg1142Gln) rs780703403
NM_000334.4(SCN4A):c.3473C>T (p.Pro1158Leu) rs1555601448
NM_000334.4(SCN4A):c.3604G>A (p.Glu1202Lys) rs201916531
NM_000334.4(SCN4A):c.3622G>C (p.Glu1208Gln) rs754401226
NM_000334.4(SCN4A):c.3688G>A (p.Val1230Met) rs778820577
NM_000334.4(SCN4A):c.3720G>A (p.Val1240=) rs1567818014
NM_000334.4(SCN4A):c.3749T>C (p.Met1250Thr)
NM_000334.4(SCN4A):c.3796G>A (p.Glu1266Lys) rs1398605254
NM_000334.4(SCN4A):c.3898C>G (p.Gln1300Glu) rs1357732381
NM_000334.4(SCN4A):c.3929T>A (p.Ile1310Asn) rs1567817380
NM_000334.4(SCN4A):c.3939G>A (p.Thr1313=)
NM_000334.4(SCN4A):c.3965C>T (p.Ala1322Val) rs1567817350
NM_000334.4(SCN4A):c.4048G>A (p.Val1350Met)
NM_000334.4(SCN4A):c.4052C>T (p.Thr1351Met) rs545724550
NM_000334.4(SCN4A):c.4066G>A (p.Asp1356Asn)
NM_000334.4(SCN4A):c.4069A>C (p.Ile1357Leu) rs1555601045
NM_000334.4(SCN4A):c.4086_4087delinsAT (p.Ile1363Phe)
NM_000334.4(SCN4A):c.4116G>A (p.Val1372=)
NM_000334.4(SCN4A):c.4201G>A (p.Val1401Met)
NM_000334.4(SCN4A):c.4216G>A (p.Ala1406Thr) rs774364108
NM_000334.4(SCN4A):c.4222C>T (p.Arg1408Cys)
NM_000334.4(SCN4A):c.4240G>A (p.Val1414Ile)
NM_000334.4(SCN4A):c.4270G>A (p.Val1424Ile) rs375844960
NM_000334.4(SCN4A):c.4334C>T (p.Thr1445Met)
NM_000334.4(SCN4A):c.4352G>A (p.Arg1451His) rs748517635
NM_000334.4(SCN4A):c.4372G>T (p.Val1458Phe) rs1199222144
NM_000334.4(SCN4A):c.4378C>T (p.Arg1460Trp) rs368256039
NM_000334.4(SCN4A):c.4386C>G (p.Ile1462Met)
NM_000334.4(SCN4A):c.4387C>A (p.Arg1463Ser)
NM_000334.4(SCN4A):c.4388G>A (p.Arg1463His)
NM_000334.4(SCN4A):c.4388G>T (p.Arg1463Leu)
NM_000334.4(SCN4A):c.4390G>A (p.Gly1464Arg) rs150423825
NM_000334.4(SCN4A):c.4429A>G (p.Met1477Val) rs1465376529
NM_000334.4(SCN4A):c.4477A>G (p.Met1493Val)
NM_000334.4(SCN4A):c.4484T>C (p.Ile1495Thr)
NM_000334.4(SCN4A):c.4503G>A (p.Met1501Ile)
NM_000334.4(SCN4A):c.4557C>A (p.Phe1519Leu) rs931435454
NM_000334.4(SCN4A):c.4568G>A (p.Gly1523Asp) rs1285419994
NM_000334.4(SCN4A):c.4601C>A (p.Thr1534Lys) rs939785324
NM_000334.4(SCN4A):c.4601C>T (p.Thr1534Met)
NM_000334.4(SCN4A):c.4609G>A (p.Gly1537Ser) rs571210585
NM_000334.4(SCN4A):c.4639A>C (p.Asn1547His)
NM_000334.4(SCN4A):c.4642A>G (p.Ser1548Gly) rs1567816311
NM_000334.4(SCN4A):c.4705G>A (p.Gly1569Ser)
NM_000334.4(SCN4A):c.4711C>T (p.Pro1571Ser) rs772552529
NM_000334.4(SCN4A):c.4783G>A (p.Ala1595Thr)
NM_000334.4(SCN4A):c.4825A>C (p.Ser1609Arg) rs1555600678
NM_000334.4(SCN4A):c.4907C>T (p.Ala1636Val)
NM_000334.4(SCN4A):c.4916G>A (p.Arg1639His)
NM_000334.4(SCN4A):c.4930G>A (p.Val1644Met) rs775486265
NM_000334.4(SCN4A):c.4955G>A (p.Arg1652Lys) rs1314887157
NM_000334.4(SCN4A):c.4993G>C (p.Asp1665His) rs1567816038
NM_000334.4(SCN4A):c.5020A>G (p.Ile1674Val)
NM_000334.4(SCN4A):c.5033A>G (p.Asp1678Gly) rs1245539617
NM_000334.4(SCN4A):c.5104G>A (p.Glu1702Lys) rs1555600605
NM_000334.4(SCN4A):c.5104_5106GAG[1] (p.Glu1703del) rs1464481652
NM_000334.4(SCN4A):c.5105A>T (p.Glu1702Val)
NM_000334.4(SCN4A):c.5110_5112del (p.Lys1704del)
NM_000334.4(SCN4A):c.5113T>A (p.Phe1705Ile) rs1064794243
NM_000334.4(SCN4A):c.5126A>G (p.Asn1709Ser) rs766365683
NM_000334.4(SCN4A):c.5127C>A (p.Asn1709Lys)
NM_000334.4(SCN4A):c.5263C>T (p.Arg1755Cys)
NM_000334.4(SCN4A):c.5284G>A (p.Gly1762Arg) rs763493738
NM_000334.4(SCN4A):c.5291A>G (p.Asp1764Gly) rs1567815771
NM_000334.4(SCN4A):c.5310G>T (p.Gly1770=) rs1349039203
NM_000334.4(SCN4A):c.5347G>A (p.Glu1783Lys) rs377673196
NM_000334.4(SCN4A):c.5366C>T (p.Ser1789Leu)
NM_000334.4(SCN4A):c.5375C>T (p.Pro1792Leu)
NM_000334.4(SCN4A):c.5401G>A (p.Ala1801Thr)
NM_000334.4(SCN4A):c.5404G>A (p.Gly1802Arg)
NM_000334.4(SCN4A):c.5405G>A (p.Gly1802Glu)
NM_000334.4(SCN4A):c.5420_5425del (p.Leu1807_Met1808del) rs781515976
NM_000334.4(SCN4A):c.5467C>A (p.Pro1823Thr)
NM_000334.4(SCN4A):c.5477_5478delinsTG (p.Thr1826Met) rs1567815577
NM_000334.4(SCN4A):c.5482C>T (p.Arg1828Cys)

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.