ClinVar Miner

List of variants in gene CHRNA4 studied for Autosomal dominant nocturnal frontal lobe epilepsy

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Total variants: 97
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HGVS dbSNP
NM_000744.6(CHRNA4):c.1007G>A (p.Arg336His) rs281865068
NM_000744.6(CHRNA4):c.1010C>T (p.Thr337Met)
NM_000744.6(CHRNA4):c.1033C>T (p.Arg345Cys) rs142260793
NM_000744.6(CHRNA4):c.1057C>A (p.Pro353Thr) rs201052218
NM_000744.6(CHRNA4):c.105C>T (p.His35=) rs199541666
NM_000744.6(CHRNA4):c.1060C>T (p.Arg354Cys) rs758534439
NM_000744.6(CHRNA4):c.1075A>T (p.Lys359Ter) rs1555837732
NM_000744.6(CHRNA4):c.1083G>A (p.Pro361=) rs202140852
NM_000744.6(CHRNA4):c.1087G>A (p.Val363Met) rs121912266
NM_000744.6(CHRNA4):c.1104C>T (p.Cys368=) rs202166947
NM_000744.6(CHRNA4):c.1139G>A (p.Ser380Asn)
NM_000744.6(CHRNA4):c.1178dup (p.Ala394fs) rs1435638963
NM_000744.6(CHRNA4):c.1196A>G (p.Gln399Arg) rs781131183
NM_000744.6(CHRNA4):c.1214C>T (p.Ser405Leu) rs1568808891
NM_000744.6(CHRNA4):c.1220C>T (p.Ser407Phe) rs761335733
NM_000744.6(CHRNA4):c.1245G>A (p.Pro415=) rs200164578
NM_000744.6(CHRNA4):c.1265G>A (p.Cys422Tyr) rs121912273
NM_000744.6(CHRNA4):c.1266C>T (p.Cys422=) rs121912274
NM_000744.6(CHRNA4):c.1269G>C (p.Lys423Asn) rs199916140
NM_000744.6(CHRNA4):c.1283A>T (p.Gln428Leu)
NM_000744.6(CHRNA4):c.1300C>T (p.Pro434Ser)
NM_000744.6(CHRNA4):c.1327C>G (p.His443Asp) rs796052319
NM_000744.6(CHRNA4):c.132C>T (p.Leu44=) rs1555840462
NM_000744.6(CHRNA4):c.1360G>A (p.Gly454Ser) rs78306886
NM_000744.6(CHRNA4):c.1369G>C (p.Ala457Pro) rs753598324
NM_000744.6(CHRNA4):c.1373C>T (p.Pro458Leu) rs121912277
NM_000744.6(CHRNA4):c.1385A>C (p.Lys462Thr) rs1568808487
NM_000744.6(CHRNA4):c.1412T>C (p.Met471Thr) rs1317529556
NM_000744.6(CHRNA4):c.1415C>T (p.Ser472Phe) rs534477048
NM_000744.6(CHRNA4):c.1420C>T (p.Pro474Ser) rs773450609
NM_000744.6(CHRNA4):c.1425C>T (p.Gly475=) rs121912279
NM_000744.6(CHRNA4):c.1447C>T (p.Arg483Trp)
NM_000744.6(CHRNA4):c.1459C>T (p.Arg487Trp) rs200200279
NM_000744.6(CHRNA4):c.1510G>A (p.Gly504Ser) rs201244483
NM_000744.6(CHRNA4):c.1520C>T (p.Ala507Val) rs747883053
NM_000744.6(CHRNA4):c.1522G>A (p.Gly508Ser) rs111286066
NM_000744.6(CHRNA4):c.1527C>T (p.Ala509=) rs758693290
NM_000744.6(CHRNA4):c.1535C>G (p.Ser512Cys) rs754133410
NM_000744.6(CHRNA4):c.1537C>T (p.Arg513Cys) rs201864944
NM_000744.6(CHRNA4):c.1538G>A (p.Arg513His) rs868845088
NM_000744.6(CHRNA4):c.1576C>T (p.Pro526Ser) rs1064795533
NM_000744.6(CHRNA4):c.1609C>T (p.Pro537Ser) rs758895760
NM_000744.6(CHRNA4):c.1625C>T (p.Pro542Leu) rs121912281
NM_000744.6(CHRNA4):c.1634C>T (p.Thr545Met) rs121912282
NM_000744.6(CHRNA4):c.1637T>G (p.Val546Gly) rs764888239
NM_000744.6(CHRNA4):c.1663C>T (p.Pro555Ser)
NM_000744.6(CHRNA4):c.1667C>T (p.Pro556Leu) rs77345643
NM_000744.6(CHRNA4):c.1670A>C (p.His557Pro) rs1282336623
NM_000744.6(CHRNA4):c.1697G>A (p.Arg566Gln) rs200810080
NM_000744.6(CHRNA4):c.1700C>G (p.Ala567Gly) rs76895198
NM_000744.6(CHRNA4):c.1700C>T (p.Ala567Val) rs76895198
NM_000744.6(CHRNA4):c.1715A>G (p.Gln572Arg) rs113794453
NM_000744.6(CHRNA4):c.1721T>C (p.Ile574Thr) rs139657121
NM_000744.6(CHRNA4):c.1726G>A (p.Asp576Asn) rs537904499
NM_000744.6(CHRNA4):c.1726G>C (p.Asp576His) rs537904499
NM_000744.6(CHRNA4):c.1757C>T (p.Ser586Leu) rs200644872
NM_000744.6(CHRNA4):c.1758+11C>T rs45442394
NM_000744.6(CHRNA4):c.176C>T (p.Ser59Leu) rs775143571
NM_000744.6(CHRNA4):c.180C>G (p.Asp60Glu) rs112051150
NM_000744.6(CHRNA4):c.181G>T (p.Val61Leu) rs150451372
NM_000744.6(CHRNA4):c.1825G>A (p.Val609Ile) rs201168195
NM_000744.6(CHRNA4):c.1854C>G (p.Phe618Leu) rs1568805215
NM_000744.6(CHRNA4):c.1861C>A (p.Pro621Thr) rs199852690
NM_000744.6(CHRNA4):c.193C>T (p.Arg65Cys) rs748440038
NM_000744.6(CHRNA4):c.211G>A (p.Ala71Thr) rs200527878
NM_000744.6(CHRNA4):c.229-10G>A rs776781462
NM_000744.6(CHRNA4):c.229G>A (p.Asp77Asn) rs1204737071
NM_000744.6(CHRNA4):c.254C>T (p.Thr85Met) rs199699339
NM_000744.6(CHRNA4):c.301G>A (p.Asp101Asn)
NM_000744.6(CHRNA4):c.358C>T (p.Arg120Trp) rs200010568
NM_000744.6(CHRNA4):c.362C>T (p.Pro121Leu) rs377114983
NM_000744.6(CHRNA4):c.372C>T (p.Val124=) rs201386851
NM_000744.6(CHRNA4):c.373C>T (p.Leu125Phe) rs1568816521
NM_000744.6(CHRNA4):c.413T>A (p.Leu138Gln) rs1379403896
NM_000744.6(CHRNA4):c.442C>T (p.Arg148Trp) rs121912243
NM_000744.6(CHRNA4):c.448C>T (p.Gln150Ter)
NM_000744.6(CHRNA4):c.461C>T (p.Pro154Leu) rs121912244
NM_000744.6(CHRNA4):c.493G>A (p.Val165Ile) rs762764855
NM_000744.6(CHRNA4):c.589C>T (p.Arg197Cys)
NM_000744.6(CHRNA4):c.590G>A (p.Arg197His)
NM_000744.6(CHRNA4):c.640G>A (p.Ala214Thr) rs758348186
NM_000744.6(CHRNA4):c.683A>T (p.Glu228Val) rs1568810474
NM_000744.6(CHRNA4):c.727C>A (p.Pro243Thr) rs1568810345
NM_000744.6(CHRNA4):c.77-10C>T rs200490160
NM_000744.6(CHRNA4):c.777C>T (p.Cys259=) rs1555837947
NM_000744.6(CHRNA4):c.77C>T (p.Ala26Val) rs761362001
NM_000744.6(CHRNA4):c.839C>G (p.Ser280Cys) rs121909580
NM_000744.6(CHRNA4):c.841G>A (p.Val281Met)
NM_000744.6(CHRNA4):c.844C>G (p.Leu282Val)
NM_000744.6(CHRNA4):c.851C>T (p.Ser284Leu) rs28931591
NM_000744.6(CHRNA4):c.880G>A (p.Glu294Lys) rs201654194
NM_000744.6(CHRNA4):c.912A>G (p.Pro304=) rs1041716120
NM_000744.6(CHRNA4):c.961A>G (p.Ile321Val) rs375340441
NM_000744.6(CHRNA4):c.967A>G (p.Ile323Val)
NM_001256573.2(CHRNA4):c.1218_1219CA[1] (p.Thr407fs) rs772170088
NM_001256573.2(CHRNA4):c.150_151inv (p.Ala51Thr)
NM_001256573.2(CHRNA4):c.699_700inv (p.Val234Ile)

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