ClinVar Miner

List of variants in gene KCNQ2 reported as likely benign by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 62
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984 0.00445
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.570C>T (p.Asn190=) rs116087798 0.00145
NM_172107.4(KCNQ2):c.81G>A (p.Leu27=) rs373897282 0.00054
NM_172107.4(KCNQ2):c.1185G>A (p.Arg395=) rs35430888 0.00052
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=) rs369438374 0.00046
NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=) rs140674819 0.00045
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.2535C>G (p.Leu845=) rs199621855 0.00032
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=) rs370155790 0.00031
NM_172107.4(KCNQ2):c.2049C>T (p.His683=) rs150982653 0.00016
NM_172107.4(KCNQ2):c.861C>G (p.Thr287=) rs11698044 0.00016
NM_172107.4(KCNQ2):c.1832C>T (p.Ala611Val) rs199644682 0.00015
NM_172107.4(KCNQ2):c.2385C>T (p.His795=) rs143016981 0.00015
NM_172107.4(KCNQ2):c.792C>T (p.Tyr264=) rs143399744 0.00015
NM_172107.4(KCNQ2):c.1814C>G (p.Thr605Ser) rs751334184 0.00013
NM_172107.4(KCNQ2):c.2265C>T (p.Tyr755=) rs563437123 0.00011
NM_172107.4(KCNQ2):c.2556G>A (p.Pro852=) rs3810472 0.00011
NM_172107.4(KCNQ2):c.754T>C (p.Leu252=) rs370174915 0.00011
NM_172107.4(KCNQ2):c.1294C>T (p.Arg432Cys) rs368720575 0.00010
NM_172107.4(KCNQ2):c.2330C>G (p.Pro777Arg) rs142729516 0.00010
NM_172107.4(KCNQ2):c.2571C>T (p.Thr857=) rs764525788 0.00010
NM_172107.4(KCNQ2):c.2119G>A (p.Ala707Thr) rs543477138 0.00007
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=) rs770187706 0.00006
NM_172107.4(KCNQ2):c.840C>T (p.Tyr280=) rs201556105 0.00006
NM_172107.4(KCNQ2):c.2377G>T (p.Val793Leu) rs377227909 0.00005
NM_172107.4(KCNQ2):c.1602G>A (p.Pro534=) rs775089685 0.00004
NM_172107.4(KCNQ2):c.1704C>T (p.Ile568=) rs144909985 0.00004
NM_172107.4(KCNQ2):c.185C>T (p.Ala62Val) rs796052612 0.00004
NM_172107.4(KCNQ2):c.2253G>A (p.Ser751=) rs552151799 0.00004
NM_172107.4(KCNQ2):c.627C>A (p.Ile209=) rs749602639 0.00004
NM_172107.4(KCNQ2):c.918G>A (p.Ala306=) rs370777198 0.00004
NM_172107.4(KCNQ2):c.1056G>A (p.Ser352=) rs769146180 0.00002
NM_172107.4(KCNQ2):c.1587C>T (p.Thr529=) rs753417293 0.00002
NM_172107.4(KCNQ2):c.1605C>T (p.Gly535=) rs767958822 0.00002
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=) rs552807375 0.00002
NM_172107.4(KCNQ2):c.681C>T (p.Ala227=) rs1472366685 0.00002
NM_172107.4(KCNQ2):c.1512G>A (p.Arg504=) rs750635636 0.00001
NM_172107.4(KCNQ2):c.1833G>A (p.Ala611=) rs564630217 0.00001
NM_172107.4(KCNQ2):c.1898T>C (p.Met633Thr) rs777332271 0.00001
NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser) rs748400155 0.00001
NM_172107.4(KCNQ2):c.2331C>T (p.Pro777=) rs903555499 0.00001
NM_172107.4(KCNQ2):c.2358G>A (p.Thr786=) rs559610397 0.00001
NM_172107.4(KCNQ2):c.2565G>A (p.Ser855=) rs951286775 0.00001
NM_172107.4(KCNQ2):c.414C>T (p.Gly138=) rs762713462 0.00001
NM_172107.4(KCNQ2):c.804C>T (p.Leu268=) rs775450377 0.00001
NM_172107.4(KCNQ2):c.822G>A (p.Thr274=) rs377485599 0.00001
NM_172107.4(KCNQ2):c.1026G>A (p.Ser342=)
NM_172107.4(KCNQ2):c.128C>T (p.Ala43Val) rs749554385
NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.1794G>A (p.Ala598=) rs779158152
NM_172107.4(KCNQ2):c.2076C>T (p.Ser692=) rs1568861472
NM_172107.4(KCNQ2):c.2121G>A (p.Ala707=) rs1269199299
NM_172107.4(KCNQ2):c.2178G>A (p.Gln726=)
NM_172107.4(KCNQ2):c.2328C>T (p.Pro776=) rs1601542678
NM_172107.4(KCNQ2):c.2505G>C (p.Ala835=) rs764615246
NM_172107.4(KCNQ2):c.555C>T (p.Ala185=) rs182946332
NM_172107.4(KCNQ2):c.705C>T (p.Ala235=) rs1291672036

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