ClinVar Miner

List of variants in gene KCNQ2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045 0.00264
NM_172107.4(KCNQ2):c.1763+47G>C rs77658489 0.00237
NM_172107.4(KCNQ2):c.*4G>A rs1801508 0.00207
NM_172107.4(KCNQ2):c.297-12282C>T rs547793052 0.00175
NM_172107.4(KCNQ2):c.*5930C>T rs527410863 0.00152
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238 0.00096
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.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.1832C>T (p.Ala611Val) rs199644682 0.00015
NM_172107.4(KCNQ2):c.2385C>T (p.His795=) rs143016981 0.00015
NM_172107.4(KCNQ2):c.1539C>T (p.Pro513=) rs376713245 0.00012
NM_172107.4(KCNQ2):c.1301+7C>T rs374877247 0.00011
NM_172107.4(KCNQ2):c.2571C>T (p.Thr857=) rs764525788 0.00010
NM_172107.4(KCNQ2):c.2373G>A (p.Pro791=) rs749958721 0.00009
NM_172107.4(KCNQ2):c.1764-6C>T rs118192239 0.00006
NM_172107.4(KCNQ2):c.2409C>T (p.Ser803=) rs374526673 0.00006
NM_172107.4(KCNQ2):c.840C>T (p.Tyr280=) rs201556105 0.00006
NM_172107.4(KCNQ2):c.918G>A (p.Ala306=) rs370777198 0.00004
NM_172107.4(KCNQ2):c.1161G>A (p.Pro387=) rs147453497 0.00003
NM_172107.4(KCNQ2):c.2067C>T (p.Ile689=) rs766273173 0.00003
NM_172107.4(KCNQ2):c.315C>T (p.Ser105=) rs200224824 0.00003
NM_172107.4(KCNQ2):c.1526-4C>T rs1396502704 0.00002
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=) rs552807375 0.00002
NM_172107.4(KCNQ2):c.552C>T (p.Ala184=) rs764119402 0.00002
NM_172107.4(KCNQ2):c.1290C>T (p.Pro430=) rs951436020 0.00001
NM_172107.4(KCNQ2):c.1506G>A (p.Ala502=) rs780293757 0.00001
NM_172107.4(KCNQ2):c.1512G>A (p.Arg504=) rs750635636 0.00001
NM_172107.4(KCNQ2):c.1929C>T (p.Ile643=) rs760044575 0.00001
NM_172107.4(KCNQ2):c.2019G>A (p.Pro673=) rs769646940 0.00001
NM_172107.4(KCNQ2):c.2118C>T (p.Ala706=) rs777993694 0.00001
NM_172107.4(KCNQ2):c.2139G>A (p.Pro713=) rs765186960 0.00001
NM_172107.4(KCNQ2):c.2329C>T (p.Pro777Ser) rs748400155 0.00001
NM_172107.4(KCNQ2):c.78G>A (p.Gly26=) rs772452810 0.00001
NM_172107.4(KCNQ2):c.88G>A (p.Gly30Ser) rs915805727 0.00001
NM_172107.4(KCNQ2):c.*5904C>G
NM_172107.4(KCNQ2):c.*5949G>A
NM_172107.4(KCNQ2):c.*5965A>G
NM_172107.4(KCNQ2):c.1014C>T (p.Gly338=)
NM_172107.4(KCNQ2):c.1118+69C>A rs142571798
NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.153C>G (p.Gly51=) rs2145921682
NM_172107.4(KCNQ2):c.1824G>A (p.Pro608=)
NM_172107.4(KCNQ2):c.1848C>T (p.Asp616=)
NM_172107.4(KCNQ2):c.1869C>T (p.Leu623=) rs774516728
NM_172107.4(KCNQ2):c.1965C>T (p.Thr655=)
NM_172107.4(KCNQ2):c.2244C>T (p.His748=) rs376327268
NM_172107.4(KCNQ2):c.2344C>A (p.Arg782=) rs745990385
NM_172107.4(KCNQ2):c.2493G>A (p.Arg831=) rs2145482676
NM_172107.4(KCNQ2):c.2547C>T (p.Cys849=)
NM_172107.4(KCNQ2):c.2583C>A (p.Pro861=) rs1601541414
NM_172107.4(KCNQ2):c.2618G>A (p.Ter873=)
NM_172107.4(KCNQ2):c.297-12263G>A
NM_172107.4(KCNQ2):c.498A>G (p.Lys166=) rs2145778834
NM_172107.4(KCNQ2):c.768G>A (p.Gly256=)

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