ClinVar Miner

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

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Gene type:
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Total variants: 94
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HGVS dbSNP
NM_172107.2:c.1067T>C
NM_172107.2:c.1075A>G
NM_172107.2:c.1259C>T
NM_172107.2:c.128C>T
NM_172107.2:c.1573T>A
NM_172107.2:c.1940G>A
NM_172107.2:c.1955C>G
NM_172107.2:c.2072G>A
NM_172107.2:c.2299C>T
NM_172107.2:c.2329C>T
NM_172107.2:c.2465C>T
NM_172107.2:c.583T>C
NM_172107.3(KCNQ2):c.1216A>G (p.Arg406Gly) rs1240338507
NM_172107.3(KCNQ2):c.1270C>T (p.Pro424Ser) rs748120886
NM_172107.3(KCNQ2):c.1324C>T (p.Arg442Cys) rs1354411692
NM_172107.3(KCNQ2):c.1490G>A (p.Arg497His) rs769414365
NM_172107.3(KCNQ2):c.1639C>T (p.Arg547Trp) rs796052650
NM_172107.3(KCNQ2):c.1814C>G (p.Thr605Ser) rs751334184
NM_172107.3(KCNQ2):c.2029C>T (p.Arg677Trp)
NM_172107.3(KCNQ2):c.2119G>A (p.Ala707Thr)
NM_172107.3(KCNQ2):c.2245G>T (p.Glu749Ter) rs796052658
NM_172107.3(KCNQ2):c.2252C>T (p.Ser751Leu) rs774002673
NM_172107.3(KCNQ2):c.2266G>A (p.Gly756Ser) rs200909197
NM_172107.3(KCNQ2):c.2278C>T (p.Arg760Cys) rs1449467609
NM_172107.3(KCNQ2):c.2279G>A (p.Arg760His) rs758530960
NM_172107.3(KCNQ2):c.2315C>T (p.Pro772Leu) rs774206764
NM_172107.3(KCNQ2):c.2330C>G (p.Pro777Arg) rs142729516
NM_172107.3(KCNQ2):c.2377G>T (p.Val793Leu) rs377227909
NM_172107.3(KCNQ2):c.2504C>T (p.Ala835Val)
NM_172107.3(KCNQ2):c.543G>A (p.Ala181=) rs1447421194
NM_172107.3(KCNQ2):c.812G>A (p.Gly271Asp)
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.1109C>G (p.Pro370Arg) rs765394232
NM_172107.4(KCNQ2):c.1211C>A (p.Ala404Asp) rs1060500601
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.1286G>T (p.Cys429Phe)
NM_172107.4(KCNQ2):c.1294C>T (p.Arg432Cys)
NM_172107.4(KCNQ2):c.1301+5C>T rs200872349
NM_172107.4(KCNQ2):c.1492A>G (p.Ile498Val)
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
NM_172107.4(KCNQ2):c.1526-6C>A rs763503121
NM_172107.4(KCNQ2):c.158T>C (p.Ile53Thr)
NM_172107.4(KCNQ2):c.1592A>T (p.Asp531Val) rs1555854018
NM_172107.4(KCNQ2):c.1655A>G (p.Lys552Arg)
NM_172107.4(KCNQ2):c.1673G>A (p.Ser558Asn)
NM_172107.4(KCNQ2):c.1729_1734dup (p.Asp577_Met578dup)
NM_172107.4(KCNQ2):c.1763+3A>G
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>T (p.Thr605Ile) rs751334184
NM_172107.4(KCNQ2):c.1834G>A (p.Glu612Lys) rs1180808546
NM_172107.4(KCNQ2):c.1870G>A (p.Gly624Arg)
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)
NM_172107.4(KCNQ2):c.1919T>C (p.Leu640Pro) rs1568862485
NM_172107.4(KCNQ2):c.1927A>C (p.Ile643Leu)
NM_172107.4(KCNQ2):c.1939C>T (p.Arg647Trp)
NM_172107.4(KCNQ2):c.1955C>T (p.Pro652Leu) rs770730662
NM_172107.4(KCNQ2):c.2006C>T (p.Pro669Leu)
NM_172107.4(KCNQ2):c.2025C>G (p.Asp675Glu) rs553337046
NM_172107.4(KCNQ2):c.2081G>C (p.Ser694Thr) rs769558746
NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del) rs758334927
NM_172107.4(KCNQ2):c.2105C>T (p.Ser702Leu)
NM_172107.4(KCNQ2):c.2165G>A (p.Ser722Asn) rs980574000
NM_172107.4(KCNQ2):c.2171C>T (p.Pro724Leu)
NM_172107.4(KCNQ2):c.2173C>T (p.Arg725Cys) rs768284828
NM_172107.4(KCNQ2):c.2210G>A (p.Gly737Asp)
NM_172107.4(KCNQ2):c.2312C>T (p.Thr771Ile) rs759258191
NM_172107.4(KCNQ2):c.244T>A (p.Tyr82Asn)
NM_172107.4(KCNQ2):c.2464G>A (p.Ala822Thr) rs751425807
NM_172107.4(KCNQ2):c.2474C>G (p.Ala825Gly) rs1568858969
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.348G>A (p.Lys116=)
NM_172107.4(KCNQ2):c.394G>T (p.Val132Leu)
NM_172107.4(KCNQ2):c.414C>T (p.Gly138=)
NM_172107.4(KCNQ2):c.514+4A>T rs1555873930
NM_172107.4(KCNQ2):c.571G>A (p.Val191Ile) rs745564113
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.641G>A (p.Arg214Gln)
NM_172107.4(KCNQ2):c.712A>G (p.Ile238Val) rs747050726
NM_172107.4(KCNQ2):c.774C>G (p.Asn258Lys)
NM_172107.4(KCNQ2):c.788C>T (p.Thr263Ile) rs1568932462
NM_172107.4(KCNQ2):c.817-10G>A
NM_172107.4(KCNQ2):c.829A>C (p.Thr277Pro)
NM_172107.4(KCNQ2):c.830C>A (p.Thr277Asn)
NM_172107.4(KCNQ2):c.847A>G (p.Lys283Glu)
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro) rs1060500602
NM_172107.4(KCNQ2):c.928G>A (p.Gly310Ser) rs1568925719

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