ClinVar Miner

List of variants in gene KCNQ2 reported as uncertain significance by Invitae

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Gene type:
ClinVar version:
Total variants: 192
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HGVS dbSNP
NC_000020.11:g.(?_63424157)_(63446857_?)dup
NM_172107.4(KCNQ2):c.1024-3C>T
NM_172107.4(KCNQ2):c.1042G>A (p.Ala348Thr)
NM_172107.4(KCNQ2):c.1043C>T (p.Ala348Val) rs1568916986
NM_172107.4(KCNQ2):c.1057C>T (p.Arg353Cys) rs118192218
NM_172107.4(KCNQ2):c.1065C>A (p.Asp355Glu)
NM_172107.4(KCNQ2):c.1067T>C (p.Leu356Pro) rs1057518772
NM_172107.4(KCNQ2):c.1072T>C (p.Ser358Pro)
NM_172107.4(KCNQ2):c.1075A>G (p.Thr359Ala) rs1064793334
NM_172107.4(KCNQ2):c.1078T>C (p.Trp360Arg)
NM_172107.4(KCNQ2):c.1103C>A (p.Thr368Asn)
NM_172107.4(KCNQ2):c.1109C>G (p.Pro370Arg) rs765394232
NM_172107.4(KCNQ2):c.1118+5C>T
NM_172107.4(KCNQ2):c.1181T>C (p.Leu394Pro)
NM_172107.4(KCNQ2):c.119T>C (p.Leu40Pro)
NM_172107.4(KCNQ2):c.1211C>A (p.Ala404Asp) rs1060500601
NM_172107.4(KCNQ2):c.1216A>G (p.Arg406Gly) rs1240338507
NM_172107.4(KCNQ2):c.1222G>C (p.Asp408His)
NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu) rs752579642
NM_172107.4(KCNQ2):c.1238C>G (p.Pro413Arg) rs1270343938
NM_172107.4(KCNQ2):c.1241C>G (p.Ser414Cys) rs1555859111
NM_172107.4(KCNQ2):c.1248-10T>G
NM_172107.4(KCNQ2):c.1258C>T (p.Pro420Ser)
NM_172107.4(KCNQ2):c.1259C>A (p.Pro420Gln)
NM_172107.4(KCNQ2):c.1259C>T (p.Pro420Leu) rs139164500
NM_172107.4(KCNQ2):c.1270C>T (p.Pro424Ser) rs748120886
NM_172107.4(KCNQ2):c.1286G>A (p.Cys429Tyr)
NM_172107.4(KCNQ2):c.1286G>T (p.Cys429Phe) rs1601590761
NM_172107.4(KCNQ2):c.128C>T (p.Ala43Val) rs749554385
NM_172107.4(KCNQ2):c.1294C>T (p.Arg432Cys) rs368720575
NM_172107.4(KCNQ2):c.1295G>A (p.Arg432His) rs758074713
NM_172107.4(KCNQ2):c.1301+5C>T rs200872349
NM_172107.4(KCNQ2):c.1324C>T (p.Arg442Cys) rs1354411692
NM_172107.4(KCNQ2):c.1347C>T (p.Gly449=) rs771845478
NM_172107.4(KCNQ2):c.1378G>A (p.Ala460Thr)
NM_172107.4(KCNQ2):c.1383G>T (p.Gln461His)
NM_172107.4(KCNQ2):c.1394G>A (p.Arg465Gln)
NM_172107.4(KCNQ2):c.1408G>C (p.Asp470His)
NM_172107.4(KCNQ2):c.1471C>T (p.Arg491Trp)
NM_172107.4(KCNQ2):c.1489C>T (p.Arg497Cys)
NM_172107.4(KCNQ2):c.1490G>A (p.Arg497His) rs769414365
NM_172107.4(KCNQ2):c.1492A>G (p.Ile498Val) rs1601572937
NM_172107.4(KCNQ2):c.149G>A (p.Arg50His) rs1064797286
NM_172107.4(KCNQ2):c.1502_1503delinsTG (p.Ala501Val)
NM_172107.4(KCNQ2):c.1504G>A (p.Ala502Thr)
NM_172107.4(KCNQ2):c.1504G>T (p.Ala502Ser) rs540103798
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val) rs375264483
NM_172107.4(KCNQ2):c.1526-2dup rs1386754191
NM_172107.4(KCNQ2):c.1526-3C>T
NM_172107.4(KCNQ2):c.1526-6C>A rs763503121
NM_172107.4(KCNQ2):c.1573T>A (p.Cys525Ser) rs371162714
NM_172107.4(KCNQ2):c.158T>C (p.Ile53Thr) rs1038663676
NM_172107.4(KCNQ2):c.1592A>T (p.Asp531Val) rs1555854018
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134
NM_172107.4(KCNQ2):c.1632-6C>G
NM_172107.4(KCNQ2):c.1633G>A (p.Val545Ile) rs757608181
NM_172107.4(KCNQ2):c.1638G>A (p.Met546Ile)
NM_172107.4(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.4(KCNQ2):c.1655A>G (p.Lys552Arg) rs1555853613
NM_172107.4(KCNQ2):c.1673G>A (p.Ser558Asn) rs1601566660
NM_172107.4(KCNQ2):c.1682C>G (p.Pro561Arg)
NM_172107.4(KCNQ2):c.1729_1734dup (p.Asp577_Met578dup) rs1601566366
NM_172107.4(KCNQ2):c.1742G>C (p.Arg581Pro) rs118192235
NM_172107.4(KCNQ2):c.1754T>C (p.Leu585Pro)
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro) rs796052656
NM_172107.4(KCNQ2):c.1763+3A>G rs1601566237
NM_172107.4(KCNQ2):c.1777G>A (p.Val593Met)
NM_172107.4(KCNQ2):c.1793C>T (p.Ala598Val) rs746079131
NM_172107.4(KCNQ2):c.1799C>T (p.Thr600Met) rs1203090297
NM_172107.4(KCNQ2):c.1811G>A (p.Arg604His) rs1203495492
NM_172107.4(KCNQ2):c.1814C>G (p.Thr605Ser) rs751334184
NM_172107.4(KCNQ2):c.1814C>T (p.Thr605Ile) rs751334184
NM_172107.4(KCNQ2):c.1823C>T (p.Pro608Leu)
NM_172107.4(KCNQ2):c.1834G>A (p.Glu612Lys) rs1180808546
NM_172107.4(KCNQ2):c.1870G>A (p.Gly624Arg) rs771211103
NM_172107.4(KCNQ2):c.1870G>C (p.Gly624Arg) rs771211103
NM_172107.4(KCNQ2):c.1888-3C>T rs772971971
NM_172107.4(KCNQ2):c.1898T>C (p.Met633Thr) rs777332271
NM_172107.4(KCNQ2):c.1903AAG[1] (p.Lys636del)
NM_172107.4(KCNQ2):c.190G>T (p.Ala64Ser) rs780110473
NM_172107.4(KCNQ2):c.1919T>C (p.Leu640Pro) rs1568862485
NM_172107.4(KCNQ2):c.1927A>C (p.Ile643Leu) rs1021032210
NM_172107.4(KCNQ2):c.1939C>T (p.Arg647Trp) rs773450069
NM_172107.4(KCNQ2):c.1940G>A (p.Arg647Gln) rs765583552
NM_172107.4(KCNQ2):c.1955C>G (p.Pro652Arg) rs770730662
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu) rs770730662
NM_172107.4(KCNQ2):c.1966G>A (p.Glu656Lys)
NM_172107.4(KCNQ2):c.1991C>T (p.Pro664Leu)
NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu) rs762130930
NM_172107.4(KCNQ2):c.199C>G (p.Pro67Ala)
NM_172107.4(KCNQ2):c.2006C>T (p.Pro669Leu) rs774306858
NM_172107.4(KCNQ2):c.2025C>G (p.Asp675Glu) rs553337046
NM_172107.4(KCNQ2):c.2029C>T (p.Arg677Trp) rs371851085
NM_172107.4(KCNQ2):c.2032G>A (p.Glu678Lys)
NM_172107.4(KCNQ2):c.2072G>A (p.Arg691His) rs773194884
NM_172107.4(KCNQ2):c.2081G>C (p.Ser694Thr) rs769558746
NM_172107.4(KCNQ2):c.2094GAA[1] (p.Lys699del)
NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del) rs758334927
NM_172107.4(KCNQ2):c.2105C>T (p.Ser702Leu) rs1555850884
NM_172107.4(KCNQ2):c.2115G>A (p.Pro705=) rs754279476
NM_172107.4(KCNQ2):c.2119G>A (p.Ala707Thr) rs543477138
NM_172107.4(KCNQ2):c.2122C>G (p.Pro708Ala)
NM_172107.4(KCNQ2):c.2123C>A (p.Pro708His)
NM_172107.4(KCNQ2):c.2126C>T (p.Pro709Leu)
NM_172107.4(KCNQ2):c.2165G>A (p.Ser722Asn) rs980574000
NM_172107.4(KCNQ2):c.2171C>T (p.Pro724Leu) rs761544880
NM_172107.4(KCNQ2):c.2173C>T (p.Arg725Cys) rs768284828
NM_172107.4(KCNQ2):c.2179G>A (p.Gly727Ser)
NM_172107.4(KCNQ2):c.2197G>A (p.Val733Met)
NM_172107.4(KCNQ2):c.2203G>A (p.Asp735Asn)
NM_172107.4(KCNQ2):c.2210G>A (p.Gly737Asp) rs751657917
NM_172107.4(KCNQ2):c.2221C>T (p.Arg741Cys)
NM_172107.4(KCNQ2):c.2228C>T (p.Pro743Leu)
NM_172107.4(KCNQ2):c.2240C>T (p.Ala747Val)
NM_172107.4(KCNQ2):c.2252C>T (p.Ser751Leu) rs774002673
NM_172107.4(KCNQ2):c.2278C>T (p.Arg760Cys) rs1449467609
NM_172107.4(KCNQ2):c.2279G>A (p.Arg760His) rs758530960
NM_172107.4(KCNQ2):c.2299C>T (p.Arg767Trp) rs755823361
NM_172107.4(KCNQ2):c.22G>A (p.Gly8Ser)
NM_172107.4(KCNQ2):c.2300G>A (p.Arg767Gln)
NM_172107.4(KCNQ2):c.2312C>T (p.Thr771Ile) rs759258191
NM_172107.4(KCNQ2):c.2315C>T (p.Pro772Leu) rs774206764
NM_172107.4(KCNQ2):c.2321_2322delinsAT (p.Cys774Tyr)
NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser) rs748400155
NM_172107.4(KCNQ2):c.2330C>G (p.Pro777Arg) rs142729516
NM_172107.4(KCNQ2):c.2357C>T (p.Thr786Met)
NM_172107.4(KCNQ2):c.2377G>T (p.Val793Leu) rs377227909
NM_172107.4(KCNQ2):c.239T>C (p.Phe80Ser)
NM_172107.4(KCNQ2):c.244T>A (p.Tyr82Asn) rs1600885336
NM_172107.4(KCNQ2):c.2464G>A (p.Ala822Thr) rs751425807
NM_172107.4(KCNQ2):c.2465C>T (p.Ala822Val) rs796052661
NM_172107.4(KCNQ2):c.2474C>G (p.Ala825Gly) rs1568858969
NM_172107.4(KCNQ2):c.2486_2487del (p.Lys829fs)
NM_172107.4(KCNQ2):c.2500A>G (p.Ile834Val) rs1555850289
NM_172107.4(KCNQ2):c.2504C>T (p.Ala835Val) rs754310883
NM_172107.4(KCNQ2):c.2548G>A (p.Gly850Arg)
NM_172107.4(KCNQ2):c.254T>C (p.Leu85Pro)
NM_172107.4(KCNQ2):c.2564C>T (p.Ser855Leu) rs12481082
NM_172107.4(KCNQ2):c.2565G>A (p.Ser855=)
NM_172107.4(KCNQ2):c.2572G>A (p.Gly858Ser) rs756609768
NM_172107.4(KCNQ2):c.286C>T (p.His96Tyr)
NM_172107.4(KCNQ2):c.307G>A (p.Val103Ile) rs1555874588
NM_172107.4(KCNQ2):c.31T>C (p.Tyr11His) rs1270851643
NM_172107.4(KCNQ2):c.322G>A (p.Val108Met) rs749164961
NM_172107.4(KCNQ2):c.336T>G (p.Phe112Leu)
NM_172107.4(KCNQ2):c.338C>T (p.Ser113Phe) rs796052616
NM_172107.4(KCNQ2):c.341C>G (p.Thr114Ser)
NM_172107.4(KCNQ2):c.348G>A (p.Lys116=) rs199860378
NM_172107.4(KCNQ2):c.387+5G>A
NM_172107.4(KCNQ2):c.394G>A (p.Val132Met)
NM_172107.4(KCNQ2):c.394G>T (p.Val132Leu) rs1600789325
NM_172107.4(KCNQ2):c.403G>T (p.Val135Leu)
NM_172107.4(KCNQ2):c.442G>A (p.Ala148Thr)
NM_172107.4(KCNQ2):c.464G>A (p.Arg155His)
NM_172107.4(KCNQ2):c.485A>G (p.Lys162Arg) rs754250122
NM_172107.4(KCNQ2):c.514+4A>T rs1555873930
NM_172107.4(KCNQ2):c.514+5G>A
NM_172107.4(KCNQ2):c.529A>G (p.Ile177Val)
NM_172107.4(KCNQ2):c.532G>A (p.Ala178Thr) rs1555873790
NM_172107.4(KCNQ2):c.543G>A (p.Ala181=) rs1447421194
NM_172107.4(KCNQ2):c.553G>A (p.Ala185Thr) rs1600786349
NM_172107.4(KCNQ2):c.553G>T (p.Ala185Ser)
NM_172107.4(KCNQ2):c.556G>A (p.Gly186Ser)
NM_172107.4(KCNQ2):c.571G>A (p.Val191Ile) rs745564113
NM_172107.4(KCNQ2):c.615T>G (p.Ile205Met)
NM_172107.4(KCNQ2):c.641G>A (p.Arg214Gln) rs1057518555
NM_172107.4(KCNQ2):c.684C>A (p.His228Gln) rs118192204
NM_172107.4(KCNQ2):c.691-3C>G
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
NM_172107.4(KCNQ2):c.712A>G (p.Ile238Val) rs747050726
NM_172107.4(KCNQ2):c.714C>A (p.Ile238=)
NM_172107.4(KCNQ2):c.740C>G (p.Ser247Trp) rs74315392
NM_172107.4(KCNQ2):c.749T>G (p.Val250Gly) rs118192206
NM_172107.4(KCNQ2):c.761A>G (p.Glu254Gly) rs794727739
NM_172107.4(KCNQ2):c.767G>T (p.Gly256Val)
NM_172107.4(KCNQ2):c.774C>G (p.Asn258Lys) rs770187706
NM_172107.4(KCNQ2):c.775G>A (p.Asp259Asn) rs777257591
NM_172107.4(KCNQ2):c.777C>A (p.Asp259Glu)
NM_172107.4(KCNQ2):c.800C>T (p.Ala267Val)
NM_172107.4(KCNQ2):c.810G>T (p.Trp270Cys)
NM_172107.4(KCNQ2):c.812G>A (p.Gly271Asp) rs118192209
NM_172107.4(KCNQ2):c.817-10G>A rs375363057
NM_172107.4(KCNQ2):c.817-3C>T
NM_172107.4(KCNQ2):c.829A>C (p.Thr277Pro) rs1555870554
NM_172107.4(KCNQ2):c.830C>A (p.Thr277Asn) rs1600755607
NM_172107.4(KCNQ2):c.844G>C (p.Asp282His) rs796052636
NM_172107.4(KCNQ2):c.864G>C (p.Trp288Cys)
NM_172107.4(KCNQ2):c.877C>T (p.Leu293Phe)
NM_172107.4(KCNQ2):c.887C>A (p.Thr296Asn)
NM_172107.4(KCNQ2):c.902G>T (p.Gly301Val) rs1131691936
NM_172107.4(KCNQ2):c.908C>G (p.Ser303Cys)
NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser) rs1568925719

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