ClinVar Miner

List of variants in gene KCNQ2 reported by PreventionGenetics, part of Exact Sciences

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Gene type:
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Total variants: 47
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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.912C>T (p.Phe304=) rs2297385 0.07323
NM_172107.4(KCNQ2):c.2238T>A (p.Pro746=) rs1801471 0.07011
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984 0.00445
NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=) rs61737409 0.00329
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045 0.00264
NM_172107.4(KCNQ2):c.*4G>A rs1801508 0.00207
NM_172107.4(KCNQ2):c.303C>G (p.Leu101=) rs145415996 0.00166
NM_172107.4(KCNQ2):c.1065C>T (p.Asp355=) rs200395340 0.00105
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238 0.00096
NM_172107.4(KCNQ2):c.795G>A (p.Ala265=) rs148654588 0.00037
NM_172107.4(KCNQ2):c.1253G>T (p.Gly418Val) rs201750561 0.00035
NM_172107.4(KCNQ2):c.2266G>A (p.Gly756Ser) rs200909197 0.00034
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=) rs370155790 0.00031
NM_172107.4(KCNQ2):c.861C>G (p.Thr287=) rs11698044 0.00016
NM_172107.4(KCNQ2):c.2385C>T (p.His795=) rs143016981 0.00015
NM_172107.4(KCNQ2):c.2265C>T (p.Tyr755=) rs563437123 0.00011
NM_172107.4(KCNQ2):c.754T>C (p.Leu252=) rs370174915 0.00011
NM_172107.4(KCNQ2):c.2560C>T (p.Arg854Cys) rs373536274 0.00009
NM_172107.4(KCNQ2):c.1635C>A (p.Val545=) rs375045009 0.00008
NM_172107.4(KCNQ2):c.2119G>A (p.Ala707Thr) rs543477138 0.00007
NM_172107.4(KCNQ2):c.840C>T (p.Tyr280=) rs201556105 0.00006
NM_172107.4(KCNQ2):c.515-9G>A rs755243604 0.00003
NM_172107.4(KCNQ2):c.1587C>T (p.Thr529=) rs753417293 0.00002
NM_172107.4(KCNQ2):c.1870G>A (p.Gly624Arg) rs771211103 0.00001
NM_172107.4(KCNQ2):c.2184C>T (p.His728=) rs745409657 0.00001
NM_172107.4(KCNQ2):c.387+10G>A rs371918220 0.00001
NM_172107.4(KCNQ2):c.1076C>T (p.Thr359Met) rs118192219
NM_172107.4(KCNQ2):c.1118+46A>T
NM_172107.4(KCNQ2):c.1118+69C>T rs142571798
NM_172107.4(KCNQ2):c.1320A>G (p.Lys440=)
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.1543G>C (p.Glu515Gln)
NM_172107.4(KCNQ2):c.1622G>A (p.Arg541Lys)
NM_172107.4(KCNQ2):c.1637T>C (p.Met546Thr) rs886041860
NM_172107.4(KCNQ2):c.1679G>A (p.Arg560Gln) rs1057517919
NM_172107.4(KCNQ2):c.2114dup (p.Ala706fs) rs1555850868
NM_172107.4(KCNQ2):c.2512G>C (p.Glu838Gln)
NM_172107.4(KCNQ2):c.341C>T (p.Thr114Ile) rs1057516077
NM_172107.4(KCNQ2):c.358A>T (p.Lys120Ter)
NM_172107.4(KCNQ2):c.431G>A (p.Arg144Gln) rs796052618
NM_172107.4(KCNQ2):c.442G>A (p.Ala148Thr) rs2081379814
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val) rs118192199
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=) rs147882199
NM_172107.4(KCNQ2):c.833T>C (p.Ile278Thr) rs1057523728
NM_172107.4(KCNQ2):c.902G>A (p.Gly301Asp) rs1131691936
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del) rs118192212

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