ClinVar Miner

List of variants in gene KCNQ2 studied for Complex neurodevelopmental disorder

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Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr) rs1801475 0.59301
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974 0.00220
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366 0.00095
NM_172107.4(KCNQ2):c.2266G>A (p.Gly756Ser) rs200909197 0.00034
NM_172107.4(KCNQ2):c.1814C>G (p.Thr605Ser) rs751334184 0.00013
NM_172107.4(KCNQ2):c.2252C>T (p.Ser751Leu) rs774002673 0.00011
NM_172107.4(KCNQ2):c.2560C>T (p.Arg854Cys) rs373536274 0.00009
NM_172107.4(KCNQ2):c.2572G>A (p.Gly858Ser) rs756609768 0.00006
NM_172107.4(KCNQ2):c.1123C>G (p.Gln375Glu) rs756360226 0.00003
NM_172107.4(KCNQ2):c.1505C>T (p.Ala502Val) rs375264483 0.00002
NM_172107.4(KCNQ2):c.2312C>T (p.Thr771Ile) rs759258191 0.00002
NM_172107.4(KCNQ2):c.2570C>T (p.Thr857Ile) rs753368036 0.00002
NM_172107.4(KCNQ2):c.1229C>T (p.Pro410Leu) rs752579642 0.00001
NM_172107.4(KCNQ2):c.128C>T (p.Ala43Val) rs749554385 0.00001
NM_172107.4(KCNQ2):c.1627G>A (p.Val543Met) rs794727134 0.00001
NM_172107.4(KCNQ2):c.1810C>T (p.Arg604Cys) rs780942181 0.00001
NM_172107.4(KCNQ2):c.1988A>G (p.Glu663Gly) rs758747437 0.00001
NM_172107.4(KCNQ2):c.2209G>A (p.Gly737Ser) rs755013341 0.00001
NM_172107.4(KCNQ2):c.2279G>A (p.Arg760His) rs758530960 0.00001
NM_172107.4(KCNQ2):c.343A>C (p.Ile115Leu) rs752331818 0.00001
NM_172107.4(KCNQ2):c.712A>G (p.Ile238Val) rs747050726 0.00001
NM_172107.4(KCNQ2):c.1004C>T (p.Pro335Leu) rs796052641
NM_172107.4(KCNQ2):c.1632-5T>A rs1416947746
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp) rs773171451
NM_172107.4(KCNQ2):c.1700T>A (p.Val567Asp) rs1131691518
NM_172107.4(KCNQ2):c.1732A>G (p.Met578Val) rs1057516123
NM_172107.4(KCNQ2):c.1742G>A (p.Arg581Gln) rs118192235
NM_172107.4(KCNQ2):c.1757A>C (p.Gln586Pro) rs796052656
NM_172107.4(KCNQ2):c.1764A>T (p.Arg588Ser) rs118192237
NM_172107.4(KCNQ2):c.1910T>G (p.Leu637Arg) rs118192240
NM_172107.4(KCNQ2):c.2102_2104del (p.Phe701del) rs758334927
NM_172107.4(KCNQ2):c.2377G>C (p.Val793Leu) rs377227909
NM_172107.4(KCNQ2):c.242T>C (p.Leu81Pro) rs2145921196
NM_172107.4(KCNQ2):c.312C>G (p.Phe104Leu) rs771809196
NM_172107.4(KCNQ2):c.338C>T (p.Ser113Phe) rs796052616
NM_172107.4(KCNQ2):c.388G>A (p.Glu130Lys) rs864321710
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp) rs1555873985
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.578C>A (p.Ala193Asp) rs796052619
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val) rs118192199
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln) rs796052621
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys) rs796052623
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.4(KCNQ2):c.608T>C (p.Leu203Pro) rs1057516086
NM_172107.4(KCNQ2):c.612G>T (p.Gln204His) rs796052625
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp) rs74315391
NM_172107.4(KCNQ2):c.620G>A (p.Arg207Gln) rs118192200
NM_172107.4(KCNQ2):c.629G>A (p.Arg210His) rs886041262
NM_172107.4(KCNQ2):c.634G>T (p.Asp212Tyr) rs2516502770
NM_172107.4(KCNQ2):c.635A>G (p.Asp212Gly) rs118192202
NM_172107.4(KCNQ2):c.640C>T (p.Arg214Trp) rs28939684
NM_172107.4(KCNQ2):c.682C>T (p.His228Tyr) rs1555873665
NM_172107.4(KCNQ2):c.683A>G (p.His228Arg) rs2081358611
NM_172107.4(KCNQ2):c.684C>A (p.His228Gln) rs118192204
NM_172107.4(KCNQ2):c.727C>T (p.Leu243Phe) rs118192205
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met) rs727503974
NM_172107.4(KCNQ2):c.826A>C (p.Thr276Pro) rs2516420994
NM_172107.4(KCNQ2):c.827C>T (p.Thr276Ile) rs1057516095
NM_172107.4(KCNQ2):c.830C>T (p.Thr277Ile) rs1600755607
NM_172107.4(KCNQ2):c.832A>G (p.Ile278Val) rs780872303
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728
NM_172107.4(KCNQ2):c.835G>T (p.Gly279Cys) rs1057516096
NM_172107.4(KCNQ2):c.836G>A (p.Gly279Asp) rs2145719551
NM_172107.4(KCNQ2):c.838T>C (p.Tyr280His) rs2081102604
NM_172107.4(KCNQ2):c.841G>A (p.Gly281Arg) rs794727813
NM_172107.4(KCNQ2):c.841G>T (p.Gly281Trp) rs794727813
NM_172107.4(KCNQ2):c.844G>C (p.Asp282His) rs796052636
NM_172107.4(KCNQ2):c.846C>A (p.Asp282Glu) rs2516420288
NM_172107.4(KCNQ2):c.850T>A (p.Tyr284Asn) rs864321706
NM_172107.4(KCNQ2):c.850T>C (p.Tyr284His) rs864321706
NM_172107.4(KCNQ2):c.850T>G (p.Tyr284Asp) rs864321706
NM_172107.4(KCNQ2):c.851A>G (p.Tyr284Cys) rs28939683
NM_172107.4(KCNQ2):c.871A>G (p.Arg291Gly) rs2516419580
NM_172107.4(KCNQ2):c.875T>C (p.Leu292Pro) rs1060500602
NM_172107.4(KCNQ2):c.877C>T (p.Leu293Phe) rs2081099943
NM_172107.4(KCNQ2):c.881C>G (p.Ala294Gly) rs118192211
NM_172107.4(KCNQ2):c.881C>T (p.Ala294Val) rs118192211
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr) rs74315390
NM_172107.4(KCNQ2):c.916G>C (p.Ala306Pro) rs74315390
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp) rs118192215
NM_172107.4(KCNQ2):c.998G>A (p.Arg333Gln) rs118192216

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