ClinVar Miner

List of variants in gene KCNQ3 reported as uncertain significance for Benign familial neonatal seizures

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Gene type:
ClinVar version:
Total variants: 186
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HGVS dbSNP
NC_000008.11:g.(?_132129252)_(132186191_?)dup
NM_004519.4(KCNQ3):c.*1066A>G rs886062681
NM_004519.4(KCNQ3):c.*1478G>A rs886062680
NM_004519.4(KCNQ3):c.*2013C>T rs886062679
NM_004519.4(KCNQ3):c.*2266_*2269del rs886062678
NM_004519.4(KCNQ3):c.*2385_*2388del rs763323782
NM_004519.4(KCNQ3):c.*3216G>C rs886062675
NM_004519.4(KCNQ3):c.*3672C>T rs886062673
NM_004519.4(KCNQ3):c.*3692T>C rs886062672
NM_004519.4(KCNQ3):c.*4008G>A rs886062670
NM_004519.4(KCNQ3):c.*5466T>A rs886062667
NM_004519.4(KCNQ3):c.*5521C>T rs886062666
NM_004519.4(KCNQ3):c.*5580G>A rs886062665
NM_004519.4(KCNQ3):c.*6205G>T rs886062664
NM_004519.4(KCNQ3):c.*6351A>G rs781738692
NM_004519.4(KCNQ3):c.*6461G>A rs886062663
NM_004519.4(KCNQ3):c.*6607A>G rs751961648
NM_004519.4(KCNQ3):c.*6831G>A rs529301177
NM_004519.4(KCNQ3):c.*7015G>A rs886062662
NM_004519.4(KCNQ3):c.*716_*717insAACA rs886062688
NM_004519.4(KCNQ3):c.*717_*718CA[17] rs35230760
NM_004519.4(KCNQ3):c.*717_*718CA[20] rs35230760
NM_004519.4(KCNQ3):c.*717_*718CA[21] rs35230760
NM_004519.4(KCNQ3):c.*717_*718CA[23] rs35230760
NM_004519.4(KCNQ3):c.*7243C>G rs886062661
NM_004519.4(KCNQ3):c.*755_*758del rs886062684
NM_004519.4(KCNQ3):c.*755_*760del rs886062683
NM_004519.4(KCNQ3):c.*757_*758CA[1] rs886062682
NM_004519.4(KCNQ3):c.*7980dup rs886062659
NM_004519.4(KCNQ3):c.-130_-129dup rs886062694
NM_004519.4(KCNQ3):c.-134dup rs886062695
NM_004519.4(KCNQ3):c.-135_-134dup rs886062695
NM_004519.4(KCNQ3):c.-136_-134dup rs886062695
NM_004519.4(KCNQ3):c.-138T>G rs868425061
NM_004519.4(KCNQ3):c.-138del rs886062696
NM_004519.4(KCNQ3):c.-139dup rs879019805
NM_004519.4(KCNQ3):c.-140_-139dup rs879019805
NM_004519.4(KCNQ3):c.-140_-139insTG rs886062697
NM_004519.4(KCNQ3):c.-141_-139dup rs879019805
NM_004519.4(KCNQ3):c.-148_-147insTG rs886062698
NM_004519.4(KCNQ3):c.1000G>A (p.Ala334Thr) rs1381851622
NM_004519.4(KCNQ3):c.1044+5G>T
NM_004519.4(KCNQ3):c.1045-1G>T
NM_004519.4(KCNQ3):c.105_106inv (p.Ala36Pro)
NM_004519.4(KCNQ3):c.1078C>T (p.Gln360Ter) rs1554627019
NM_004519.4(KCNQ3):c.1090C>T (p.Arg364Cys) rs1459374430
NM_004519.4(KCNQ3):c.1091G>A (p.Arg364His)
NM_004519.4(KCNQ3):c.1141-3C>T rs377479583
NM_004519.4(KCNQ3):c.115G>C (p.Glu39Gln) rs1448580874
NM_004519.4(KCNQ3):c.116_148dup (p.Glu39_Asp49dup) rs746906634
NM_004519.4(KCNQ3):c.1178T>C (p.Ile393Thr) rs201814804
NM_004519.4(KCNQ3):c.1199G>A (p.Arg400Lys) rs943073757
NM_004519.4(KCNQ3):c.1207G>A (p.Glu403Lys) rs142445773
NM_004519.4(KCNQ3):c.1216G>A (p.Val406Ile) rs144474368
NM_004519.4(KCNQ3):c.1226C>G (p.Pro409Arg) rs149272208
NM_004519.4(KCNQ3):c.1285C>A (p.Arg429=)
NM_004519.4(KCNQ3):c.132G>C (p.Gly44=) rs762808143
NM_004519.4(KCNQ3):c.1363G>C (p.Glu455Gln)
NM_004519.4(KCNQ3):c.1391T>C (p.Val464Ala) rs143664009
NM_004519.4(KCNQ3):c.1404T>A (p.Asn468Lys)
NM_004519.4(KCNQ3):c.1404T>G (p.Asn468Lys)
NM_004519.4(KCNQ3):c.1412G>C (p.Arg471Pro)
NM_004519.4(KCNQ3):c.1421C>T (p.Thr474Met) rs757583944
NM_004519.4(KCNQ3):c.1430G>A (p.Arg477His) rs141821338
NM_004519.4(KCNQ3):c.1471G>A (p.Gly491Arg) rs201552546
NM_004519.4(KCNQ3):c.1472G>A (p.Gly491Glu) rs753920912
NM_004519.4(KCNQ3):c.1489G>A (p.Ala497Thr) rs368279666
NM_004519.4(KCNQ3):c.1490C>T (p.Ala497Val)
NM_004519.4(KCNQ3):c.1507G>A (p.Gly503Arg) rs773584143
NM_004519.4(KCNQ3):c.1519C>G (p.Pro507Ala)
NM_004519.4(KCNQ3):c.1525G>A (p.Glu509Lys) rs774311301
NM_004519.4(KCNQ3):c.153G>C (p.Glu51Asp)
NM_004519.4(KCNQ3):c.1543C>G (p.Leu515Val) rs368013249
NM_004519.4(KCNQ3):c.1564G>A (p.Val522Ile) rs143683496
NM_004519.4(KCNQ3):c.1588T>C (p.Tyr530His) rs781350596
NM_004519.4(KCNQ3):c.1624G>A (p.Asp542Asn)
NM_004519.4(KCNQ3):c.1685dup (p.Tyr563fs) rs1563767053
NM_004519.4(KCNQ3):c.1697C>T (p.Thr566Met)
NM_004519.4(KCNQ3):c.170T>C (p.Leu57Pro) rs886062692
NM_004519.4(KCNQ3):c.1720C>A (p.Pro574Thr) rs74582884
NM_004519.4(KCNQ3):c.1723G>A (p.Gly575Arg)
NM_004519.4(KCNQ3):c.1736C>T (p.Thr579Met) rs761487326
NM_004519.4(KCNQ3):c.173G>A (p.Gly58Glu)
NM_004519.4(KCNQ3):c.174G>T (p.Gly58=)
NM_004519.4(KCNQ3):c.1769C>T (p.Ala590Val)
NM_004519.4(KCNQ3):c.1775C>G (p.Thr592Ser) rs556421495
NM_004519.4(KCNQ3):c.1780C>T (p.Pro594Ser) rs868191966
NM_004519.4(KCNQ3):c.178G>A (p.Gly60Arg)
NM_004519.4(KCNQ3):c.1799G>A (p.Arg600Lys) rs1554622023
NM_004519.4(KCNQ3):c.1809A>G (p.Pro603=) rs886062691
NM_004519.4(KCNQ3):c.1810T>A (p.Tyr604Asn) rs1060500606
NM_004519.4(KCNQ3):c.1844A>G (p.Asp615Gly)
NM_004519.4(KCNQ3):c.1885G>A (p.Val629Ile) rs185511111
NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) rs185511111
NM_004519.4(KCNQ3):c.1888C>A (p.Gln630Lys)
NM_004519.4(KCNQ3):c.1918G>A (p.Val640Met) rs767903815
NM_004519.4(KCNQ3):c.1939A>T (p.Met647Leu)
NM_004519.4(KCNQ3):c.1941G>A (p.Met647Ile) rs1227129126
NM_004519.4(KCNQ3):c.1964C>T (p.Thr655Met) rs199942237
NM_004519.4(KCNQ3):c.1986C>T (p.Gly662=) rs140383266
NM_004519.4(KCNQ3):c.1995G>T (p.Ser665=) rs759776061
NM_004519.4(KCNQ3):c.2005G>A (p.Ala669Thr) rs201812160
NM_004519.4(KCNQ3):c.2024A>G (p.Asn675Ser) rs1586750924
NM_004519.4(KCNQ3):c.2038T>G (p.Leu680Val) rs1223253841
NM_004519.4(KCNQ3):c.2044A>G (p.Thr682Ala) rs768163501
NM_004519.4(KCNQ3):c.2057A>G (p.Asn686Ser)
NM_004519.4(KCNQ3):c.2060A>T (p.Tyr687Phe)
NM_004519.4(KCNQ3):c.2072G>A (p.Gly691Asp) rs758790946
NM_004519.4(KCNQ3):c.2078C>T (p.Pro693Leu)
NM_004519.4(KCNQ3):c.2078dup (p.Glu694fs)
NM_004519.4(KCNQ3):c.2084C>T (p.Pro695Leu) rs760983146
NM_004519.4(KCNQ3):c.2139del (p.Phe713fs) rs1554621412
NM_004519.4(KCNQ3):c.2139dup (p.Ala714fs) rs1554621412
NM_004519.4(KCNQ3):c.2144A>G (p.His715Arg) rs112314858
NM_004519.4(KCNQ3):c.2146G>C (p.Asp716His) rs149324120
NM_004519.4(KCNQ3):c.214G>A (p.Gly72Ser) rs759310149
NM_004519.4(KCNQ3):c.2165G>A (p.Arg722Gln) rs377725346
NM_004519.4(KCNQ3):c.2169G>T (p.Gly723=) rs780315758
NM_004519.4(KCNQ3):c.2183G>C (p.Gly728Ala)
NM_004519.4(KCNQ3):c.2219C>T (p.Thr740Met) rs764065145
NM_004519.4(KCNQ3):c.221G>A (p.Arg74His)
NM_004519.4(KCNQ3):c.2237C>T (p.Thr746Met) rs375833070
NM_004519.4(KCNQ3):c.2239G>T (p.Val747Phe) rs1563761711
NM_004519.4(KCNQ3):c.2248A>G (p.Ile750Val)
NM_004519.4(KCNQ3):c.2270G>A (p.Arg757Gln)
NM_004519.4(KCNQ3):c.2274G>A (p.Val758=) rs886062689
NM_004519.4(KCNQ3):c.2295C>A (p.Asp765Glu)
NM_004519.4(KCNQ3):c.2318G>A (p.Arg773Gln) rs769160647
NM_004519.4(KCNQ3):c.2320A>G (p.Ile774Val) rs1284135753
NM_004519.4(KCNQ3):c.2329C>T (p.Arg777Trp) rs776128068
NM_004519.4(KCNQ3):c.2329dup (p.Arg777fs)
NM_004519.4(KCNQ3):c.2338C>T (p.Arg780Cys) rs138852641
NM_004519.4(KCNQ3):c.2344A>G (p.Ile782Val)
NM_004519.4(KCNQ3):c.2382G>A (p.Ser794=)
NM_004519.4(KCNQ3):c.2383G>A (p.Val795Ile) rs764544537
NM_004519.4(KCNQ3):c.2386A>G (p.Asn796Asp) rs1289523204
NM_004519.4(KCNQ3):c.2393A>C (p.Glu798Ala) rs1563761409
NM_004519.4(KCNQ3):c.2423G>A (p.Ser808Asn) rs1554621319
NM_004519.4(KCNQ3):c.2443G>T (p.Asp815Tyr) rs530506549
NM_004519.4(KCNQ3):c.2455G>A (p.Gly819Ser) rs540574784
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254
NM_004519.4(KCNQ3):c.2492G>A (p.Arg831Gln) rs149004528
NM_004519.4(KCNQ3):c.2505G>C (p.Glu835Asp) rs748320350
NM_004519.4(KCNQ3):c.2507G>A (p.Gly836Asp)
NM_004519.4(KCNQ3):c.2534T>C (p.Phe845Ser)
NM_004519.4(KCNQ3):c.259C>T (p.Leu87Phe) rs752131052
NM_004519.4(KCNQ3):c.2611C>G (p.Pro871Ala) rs200647826
NM_004519.4(KCNQ3):c.2614A>G (p.Ile872Val) rs199682667
NM_004519.4(KCNQ3):c.32C>T (p.Ala11Val)
NM_004519.4(KCNQ3):c.337G>A (p.Asp113Asn) rs1299548932
NM_004519.4(KCNQ3):c.358G>T (p.Gly120Cys)
NM_004519.4(KCNQ3):c.35C>T (p.Ala12Val) rs796052672
NM_004519.4(KCNQ3):c.373T>C (p.Tyr125His)
NM_004519.4(KCNQ3):c.387-4C>G rs1563794357
NM_004519.4(KCNQ3):c.387G>C (p.Val129=) rs1060500604
NM_004519.4(KCNQ3):c.38_40GCG[5] (p.Gly16dup) rs981093917
NM_004519.4(KCNQ3):c.402G>A (p.Leu134=) rs1253481641
NM_004519.4(KCNQ3):c.421G>A (p.Val141Ile)
NM_004519.4(KCNQ3):c.449C>A (p.Thr150Asn) rs974274243
NM_004519.4(KCNQ3):c.490A>G (p.Ile164Val)
NM_004519.4(KCNQ3):c.49G>A (p.Asp17Asn) rs1355500787
NM_004519.4(KCNQ3):c.50_67del (p.Asp17_Gly22del) rs1376853632
NM_004519.4(KCNQ3):c.56_73del (p.Gly19_Gly24del) rs774616642
NM_004519.4(KCNQ3):c.608T>C (p.Ile203Thr) rs1554628237
NM_004519.4(KCNQ3):c.61G>A (p.Gly21Arg)
NM_004519.4(KCNQ3):c.63_71dup (p.Gly22_Gly24dup) rs748459358
NM_004519.4(KCNQ3):c.640G>A (p.Ala214Thr) rs1563791055
NM_004519.4(KCNQ3):c.656G>T (p.Gly219Val)
NM_004519.4(KCNQ3):c.725G>A (p.Arg242Gln)
NM_004519.4(KCNQ3):c.758C>G (p.Ala253Gly)
NM_004519.4(KCNQ3):c.769C>T (p.His257Tyr)
NM_004519.4(KCNQ3):c.788C>T (p.Thr263Met) rs1479652323
NM_004519.4(KCNQ3):c.847G>A (p.Glu283Lys) rs1586801275
NM_004519.4(KCNQ3):c.847G>C (p.Glu283Gln)
NM_004519.4(KCNQ3):c.856G>A (p.Val286Ile) rs549372035
NM_004519.4(KCNQ3):c.856G>T (p.Val286Phe)
NM_004519.4(KCNQ3):c.860C>T (p.Pro287Leu) rs531151809
NM_004519.4(KCNQ3):c.878G>T (p.Gly293Val)
NM_004519.4(KCNQ3):c.914A>T (p.Asp305Val) rs118192248
NM_004519.4(KCNQ3):c.916G>A (p.Ala306Thr) rs1586801127
NM_004519.4(KCNQ3):c.91G>A (p.Gly31Arg)
NM_004519.4(KCNQ3):c.959G>A (p.Gly320Glu) rs1563787894
NM_004519.4(KCNQ3):c.970C>G (p.Pro324Ala)
NM_004519.4(KCNQ3):c.989G>A (p.Arg330His)
NM_004519.4(KCNQ3):c.98C>T (p.Ala33Val)
NM_004519.4(KCNQ3):c.99_101GGC[4] (p.Ala36dup)

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