ClinVar Miner

List of variants in gene KCND2 reported as likely benign for Early myoclonic encephalopathy

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Gene type:
ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_012281.3(KCND2):c.746C>T (p.Ala249Val) rs146220085 0.00102
NM_012281.3(KCND2):c.1375-8G>T rs201244697 0.00093
NM_012281.3(KCND2):c.1415C>T (p.Ser472Phe) rs146058924 0.00091
NM_012281.3(KCND2):c.216G>A (p.Arg72=) rs140949631 0.00047
NM_012281.3(KCND2):c.1441C>T (p.Leu481=) rs370190131 0.00044
NM_012281.3(KCND2):c.432C>T (p.Asn144=) rs150367628 0.00029
NM_012281.3(KCND2):c.1209G>A (p.Pro403=) rs139984469 0.00026
NM_012281.3(KCND2):c.1116-14T>A rs184667978 0.00021
NM_012281.3(KCND2):c.1598G>A (p.Arg533Gln) rs367713278 0.00019
NM_012281.3(KCND2):c.1338G>A (p.Gln446=) rs144966242 0.00018
NM_012281.3(KCND2):c.1418G>C (p.Ser473Thr) rs140087318 0.00017
NM_012281.3(KCND2):c.1534C>T (p.Pro512Ser) rs372198586 0.00014
NM_012281.3(KCND2):c.33T>G (p.Phe11Leu) rs35950053 0.00011
NM_012281.3(KCND2):c.1200A>G (p.Leu400=) rs759052844 0.00008
NM_012281.3(KCND2):c.810C>A (p.Ile270=) rs575666166 0.00008
NM_012281.3(KCND2):c.1278+17G>A rs374091534 0.00006
NM_012281.3(KCND2):c.21G>C (p.Ala7=) rs369141117 0.00006
NM_012281.3(KCND2):c.1173G>A (p.Ser391=) rs367909110 0.00005
NM_012281.3(KCND2):c.122C>T (p.Ala41Val) rs775640968 0.00005
NM_012281.3(KCND2):c.1674G>A (p.Thr558=) rs142262674 0.00005
NM_012281.3(KCND2):c.51C>T (p.Ile17=) rs751910698 0.00005
NM_012281.3(KCND2):c.1278+16C>T rs762461586 0.00004
NM_012281.3(KCND2):c.1635A>G (p.Val545=) rs763513144 0.00004
NM_012281.3(KCND2):c.1715+16C>T rs375239098 0.00004
NM_012281.3(KCND2):c.1788A>G (p.Ala596=) rs1339923869 0.00004
NM_012281.3(KCND2):c.27G>T (p.Leu9=) rs753709368 0.00004
NM_012281.3(KCND2):c.31T>C (p.Phe11Leu) rs142392153 0.00004
NM_012281.3(KCND2):c.48T>C (p.Ala16=) rs141637732 0.00004
NM_012281.3(KCND2):c.765C>T (p.Tyr255=) rs748088278 0.00004
NM_012281.3(KCND2):c.949C>T (p.Leu317=) rs3814462 0.00004
NM_012281.3(KCND2):c.1668C>T (p.Leu556=) rs1212749208 0.00003
NM_012281.3(KCND2):c.42A>G (p.Ala14=) rs758651064 0.00003
NM_012281.3(KCND2):c.705C>A (p.Ala235=) rs753241920 0.00003
NM_012281.3(KCND2):c.1053T>A (p.Ala351=) rs563342892 0.00002
NM_012281.3(KCND2):c.1320C>T (p.Ser440=) rs200177734 0.00002
NM_012281.3(KCND2):c.1671C>T (p.Ser557=) rs369805149 0.00002
NM_012281.3(KCND2):c.1758A>G (p.Leu586=) rs533375794 0.00002
NM_012281.3(KCND2):c.318T>C (p.Tyr106=) rs769794049 0.00002
NM_012281.3(KCND2):c.469G>A (p.Ala157Thr) rs144765242 0.00002
NM_012281.3(KCND2):c.573G>C (p.Thr191=) rs780770259 0.00002
NM_012281.3(KCND2):c.750A>G (p.Ala250=) rs778783764 0.00002
NM_012281.3(KCND2):c.795C>T (p.Ile265=) rs776818004 0.00002
NM_012281.3(KCND2):c.108A>G (p.Lys36=) rs759371689 0.00001
NM_012281.3(KCND2):c.1095C>T (p.Ile365=) rs764081621 0.00001
NM_012281.3(KCND2):c.1116-8T>C rs1162564000 0.00001
NM_012281.3(KCND2):c.1164T>A (p.Ser388=) rs1244557597 0.00001
NM_012281.3(KCND2):c.1182G>A (p.Gly394=) rs1402229920 0.00001
NM_012281.3(KCND2):c.1227C>T (p.Phe409=) rs753977756 0.00001
NM_012281.3(KCND2):c.1254A>G (p.Arg418=) rs947120230 0.00001
NM_012281.3(KCND2):c.1314C>T (p.Ser438=) rs758879867 0.00001
NM_012281.3(KCND2):c.1325A>G (p.Asn442Ser) rs957617040 0.00001
NM_012281.3(KCND2):c.1329T>C (p.Ala443=) rs1161024740 0.00001
NM_012281.3(KCND2):c.1374+18del rs780298667 0.00001
NM_012281.3(KCND2):c.1485C>T (p.Asp495=) rs772458094 0.00001
NM_012281.3(KCND2):c.1662A>G (p.Gln554=) rs149174897 0.00001
NM_012281.3(KCND2):c.1833C>T (p.Asp611=) rs751906335 0.00001
NM_012281.3(KCND2):c.234A>C (p.Pro78=) rs547897725 0.00001
NM_012281.3(KCND2):c.249T>C (p.Tyr83=) rs757892556 0.00001
NM_012281.3(KCND2):c.321T>C (p.Pro107=) rs775550938 0.00001
NM_012281.3(KCND2):c.336C>A (p.Ile112=) rs774763376 0.00001
NM_012281.3(KCND2):c.366T>C (p.Phe122=) rs1436911197 0.00001
NM_012281.3(KCND2):c.384C>A (p.Ile128=) rs571281706 0.00001
NM_012281.3(KCND2):c.402T>C (p.Tyr134=) rs777246112 0.00001
NM_012281.3(KCND2):c.585T>C (p.Ile195=) rs1235035337 0.00001
NM_012281.3(KCND2):c.648T>A (p.Ile216=) rs773347530 0.00001
NM_012281.3(KCND2):c.702G>A (p.Thr234=) rs141583673 0.00001
NM_012281.3(KCND2):c.930G>A (p.Leu310=) rs1359896450 0.00001
NM_012281.3(KCND2):c.975C>T (p.Gly325=) rs747037415 0.00001
NM_012281.3(KCND2):c.990G>A (p.Ser330=) rs367633670 0.00001
NM_012281.3(KCND2):c.1014C>T (p.Phe338=) rs781428853
NM_012281.3(KCND2):c.1044G>A (p.Gly348=)
NM_012281.3(KCND2):c.1044G>C (p.Gly348=)
NM_012281.3(KCND2):c.1050G>A (p.Ser350=)
NM_012281.3(KCND2):c.1053T>C (p.Ala351=)
NM_012281.3(KCND2):c.1056C>T (p.Ser352=)
NM_012281.3(KCND2):c.105G>A (p.Arg35=)
NM_012281.3(KCND2):c.1068C>T (p.Ser356=) rs1221856771
NM_012281.3(KCND2):c.1071C>T (p.Ile357=)
NM_012281.3(KCND2):c.1115+13A>C
NM_012281.3(KCND2):c.1116-16T>G
NM_012281.3(KCND2):c.1116-17T>C
NM_012281.3(KCND2):c.1167C>T (p.Ile389=)
NM_012281.3(KCND2):c.1174C>T (p.Leu392=)
NM_012281.3(KCND2):c.1194T>C (p.Ile398=)
NM_012281.3(KCND2):c.1245G>A (p.Gln415=)
NM_012281.3(KCND2):c.1278+13C>T
NM_012281.3(KCND2):c.1278+7A>G rs2116147039
NM_012281.3(KCND2):c.1279-19T>A
NM_012281.3(KCND2):c.1279-6C>T
NM_012281.3(KCND2):c.1374+15A>C
NM_012281.3(KCND2):c.1375-10T>G
NM_012281.3(KCND2):c.1375-14C>G
NM_012281.3(KCND2):c.1375-7T>G
NM_012281.3(KCND2):c.1380A>G (p.Ser460=) rs1584903787
NM_012281.3(KCND2):c.1411G>A (p.Gly471Ser)
NM_012281.3(KCND2):c.1464C>T (p.Thr488=)
NM_012281.3(KCND2):c.1468-13A>G rs2116189673
NM_012281.3(KCND2):c.1468-14C>T rs1792997939
NM_012281.3(KCND2):c.1468-16T>C
NM_012281.3(KCND2):c.1494C>T (p.Val498=) rs2116189796
NM_012281.3(KCND2):c.1704T>G (p.Pro568=) rs2116190590
NM_012281.3(KCND2):c.1715+8A>G rs1793001971
NM_012281.3(KCND2):c.1716-14T>G
NM_012281.3(KCND2):c.1716-6T>C
NM_012281.3(KCND2):c.1716-7C>G rs1584905520
NM_012281.3(KCND2):c.174C>G (p.Thr58=)
NM_012281.3(KCND2):c.174C>T (p.Thr58=)
NM_012281.3(KCND2):c.1773T>C (p.Pro591=) rs1404266875
NM_012281.3(KCND2):c.1782T>C (p.Thr594=)
NM_012281.3(KCND2):c.1797C>T (p.Ser599=)
NM_012281.3(KCND2):c.1803A>G (p.Pro601=)
NM_012281.3(KCND2):c.1824A>G (p.Pro608=) rs2116195795
NM_012281.3(KCND2):c.1836T>C (p.Asp612=)
NM_012281.3(KCND2):c.1893A>G (p.Ter631=)
NM_012281.3(KCND2):c.195T>A (p.Thr65=) rs1584706291
NM_012281.3(KCND2):c.213G>A (p.Glu71=)
NM_012281.3(KCND2):c.273C>T (p.Ile91=) rs2116242517
NM_012281.3(KCND2):c.279C>T (p.Arg93=)
NM_012281.3(KCND2):c.27G>C (p.Leu9=) rs753709368
NM_012281.3(KCND2):c.330G>A (p.Glu110=) rs1584706391
NM_012281.3(KCND2):c.39G>A (p.Arg13=)
NM_012281.3(KCND2):c.405G>A (p.Glu135=) rs1799153420
NM_012281.3(KCND2):c.438G>A (p.Glu146=)
NM_012281.3(KCND2):c.468C>G (p.Thr156=) rs149119940
NM_012281.3(KCND2):c.468C>T (p.Thr156=) rs149119940
NM_012281.3(KCND2):c.553C>T (p.Leu185=)
NM_012281.3(KCND2):c.576G>A (p.Gly192=)
NM_012281.3(KCND2):c.582C>T (p.Phe194=)
NM_012281.3(KCND2):c.588C>T (p.Ala196=)
NM_012281.3(KCND2):c.603G>T (p.Ala201=) rs756020692
NM_012281.3(KCND2):c.624G>A (p.Pro208=) rs370036350
NM_012281.3(KCND2):c.627C>T (p.Cys209=)
NM_012281.3(KCND2):c.639A>C (p.Pro213=)
NM_012281.3(KCND2):c.666A>C (p.Gly222=)
NM_012281.3(KCND2):c.684C>T (p.Ala228=) rs143590028
NM_012281.3(KCND2):c.696G>A (p.Leu232=)
NM_012281.3(KCND2):c.69C>G (p.Ala23=)
NM_012281.3(KCND2):c.69C>T (p.Ala23=)
NM_012281.3(KCND2):c.726T>G (p.Val242=)
NM_012281.3(KCND2):c.742C>T (p.Leu248=) rs2116243692
NM_012281.3(KCND2):c.774G>C (p.Val258=)
NM_012281.3(KCND2):c.852C>T (p.Asp284=)
NM_012281.3(KCND2):c.870C>A (p.Val290=) rs1584706773
NM_012281.3(KCND2):c.915C>G (p.Arg305=)
NM_012281.3(KCND2):c.927C>A (p.Gly309=) rs2116244171
NM_012281.3(KCND2):c.939G>C (p.Leu313=) rs1303676765
NM_012281.3(KCND2):c.954G>A (p.Lys318=)
NM_012281.3(KCND2):c.978C>T (p.Phe326=) rs1554421107
NM_012281.3(KCND2):c.993C>A (p.Leu331=)

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