ClinVar Miner

List of variants in gene KCNQ2 reported by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 58
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HGVS dbSNP
NM_172107.3(KCNQ2):c.1259C>T (p.Pro420Leu) rs139164500
NM_172107.3(KCNQ2):c.1814C>G (p.Thr605Ser) rs751334184
NM_172107.3(KCNQ2):c.1940G>A (p.Arg647Gln) rs765583552
NM_172107.3(KCNQ2):c.2T>A (p.Met1Lys) rs118192186
NM_172107.3(KCNQ2):c.793G>A (p.Ala265Thr) rs794727740
NM_172107.3(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.4(KCNQ2):c.*4G>A rs1801508
NM_172107.4(KCNQ2):c.102del (p.Thr35fs) rs1568986619
NM_172107.4(KCNQ2):c.1088A>G (p.Tyr363Cys) rs794727935
NM_172107.4(KCNQ2):c.1118+2T>C rs886042605
NM_172107.4(KCNQ2):c.1149-3C>T rs1555860723
NM_172107.4(KCNQ2):c.1185G>A (p.Arg395=) rs35430888
NM_172107.4(KCNQ2):c.1209C>T (p.Leu403=) rs752280961
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs) rs886041339
NM_172107.4(KCNQ2):c.1301+7C>T rs374877247
NM_172107.4(KCNQ2):c.1301+8G>T rs532111320
NM_172107.4(KCNQ2):c.1302-29TGTC[5] rs112006486
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter) rs118192226
NM_172107.4(KCNQ2):c.1347C>T (p.Gly449=) rs771845478
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238
NM_172107.4(KCNQ2):c.144del (p.Lys49fs) rs1555881809
NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134
NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=) rs61737409
NM_172107.4(KCNQ2):c.1820del (p.Gly607fs) rs1555851513
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=) rs369438374
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=) rs552807375
NM_172107.4(KCNQ2):c.1887+5G>A rs777916008
NM_172107.4(KCNQ2):c.1888-3C>T rs772971971
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984
NM_172107.4(KCNQ2):c.2052C>T (p.Gly684=) rs764444302
NM_172107.4(KCNQ2):c.2087C>T (p.Thr696Met) rs570139975
NM_172107.4(KCNQ2):c.2106G>A (p.Ser702=) rs187252584
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=) rs139587368
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=) rs1801471
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366
NM_172107.4(KCNQ2):c.2280C>T (p.Arg760=) rs753696924
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr) rs1801475
NM_172107.4(KCNQ2):c.2358G>A (p.Thr786=) rs559610397
NM_172107.4(KCNQ2):c.2500A>G (p.Ile834Val) rs1555850289
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045
NM_172107.4(KCNQ2):c.2553C>T (p.Pro851=) rs1568858578
NM_172107.4(KCNQ2):c.2556G>A (p.Pro852=) rs3810472
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser) rs587780369
NM_172107.4(KCNQ2):c.303C>G (p.Leu101=) rs145415996
NM_172107.4(KCNQ2):c.463C>T (p.Arg155Cys) rs886042698
NM_172107.4(KCNQ2):c.485A>G (p.Lys162Arg) rs754250122
NM_172107.4(KCNQ2):c.570C>T (p.Asn190=) rs116087798
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp) rs118192203
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.4(KCNQ2):c.701C>T (p.Thr234Ile) rs794727741
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=) rs147882199
NM_172107.4(KCNQ2):c.761A>G (p.Glu254Gly) rs794727739
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=) rs770187706
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) rs794727813
NM_172107.4(KCNQ2):c.860C>T (p.Thr287Ile) rs727503973
NM_172107.4(KCNQ2):c.921G>A (p.Leu307=)

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