ClinVar Miner

List of variants in gene KCNQ2 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 155
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HGVS dbSNP gnomAD frequency
NM_172107.4(KCNQ2):c.297-170C>T rs2297387 0.66462
NM_172107.4(KCNQ2):c.388-271A>G rs13036409 0.62249
NM_172107.4(KCNQ2):c.388-285T>G rs6062940 0.61230
NM_172107.4(KCNQ2):c.388-303G>C rs879704305 0.60243
NM_172107.4(KCNQ2):c.2339A>C (p.Asn780Thr) rs1801475 0.59301
NM_172107.4(KCNQ2):c.388-319del rs201082930 0.56991
NM_172107.4(KCNQ2):c.515-151C>T rs4809302 0.55649
NM_172107.4(KCNQ2):c.388-325A>T rs75064108 0.52956
NM_172107.4(KCNQ2):c.388-305dup rs879770826 0.48639
NM_172107.4(KCNQ2):c.388-298G>C rs67690852 0.37909
NM_172107.4(KCNQ2):c.1024-164G>A rs6011829 0.29511
NM_172107.4(KCNQ2):c.1024-204C>T rs6011830 0.28901
NM_172107.4(KCNQ2):c.691-326G>A rs200484615 0.27958
NM_172107.4(KCNQ2):c.1526-163G>A rs2281570 0.27272
NM_172107.4(KCNQ2):c.691-176A>G rs375283583 0.25927
NM_172107.4(KCNQ2):c.1217+215C>T rs6062931 0.21586
NM_172107.4(KCNQ2):c.297-297A>G rs6062941 0.21228
NM_172107.4(KCNQ2):c.388-26G>T rs6062939 0.21189
NM_172107.4(KCNQ2):c.1247+113C>T rs6089910 0.21118
NM_172107.4(KCNQ2):c.928-228G>A rs914476 0.19801
NM_172107.4(KCNQ2):c.1764-133A>G rs2236197 0.19102
NM_172107.4(KCNQ2):c.1888-82C>G rs3746363 0.18226
NM_172107.4(KCNQ2):c.1888-138C>G rs3746362 0.17854
NC_000020.11:g.63472830A>G rs189972692 0.17654
NM_172107.4(KCNQ2):c.1887+150T>C rs34821017 0.14925
NM_172107.4(KCNQ2):c.1217+298C>T rs2270240 0.12938
NM_172107.4(KCNQ2):c.1302-18C>T rs756773233 0.12037
NM_172107.4(KCNQ2):c.1119-161C>T rs73146513 0.11414
NM_172107.4(KCNQ2):c.691-251G>A rs200477302 0.11352
NM_172107.4(KCNQ2):c.1119-235G>A rs61313879 0.11193
NM_172107.4(KCNQ2):c.691-194A>G rs532897092 0.10863
NM_172107.4(KCNQ2):c.1764-283C>T rs2236198 0.10684
NM_172107.4(KCNQ2):c.1631+141C>T rs2281569 0.10370
NM_172107.4(KCNQ2):c.1302-70G>A rs75305929 0.09670
NM_172107.4(KCNQ2):c.1218-180G>A rs2302514 0.09383
NM_172107.4(KCNQ2):c.515-76C>T rs2297386 0.08317
NM_172107.4(KCNQ2):c.1888-195C>G rs3746361 0.08290
NM_172107.4(KCNQ2):c.-88G>T rs185287315 0.08192
NC_000020.11:g.63472909G>A rs112489182 0.07562
NM_172107.4(KCNQ2):c.928-87G>C rs73146526 0.07362
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.1247+193C>T rs45464194 0.06802
NM_172107.4(KCNQ2):c.1149-161C>T rs117768093 0.06794
NM_172107.4(KCNQ2):c.1888-29G>A rs3746364 0.06734
NM_172107.4(KCNQ2):c.1302-275_1302-274insT rs541733900 0.06404
NM_172107.4(KCNQ2):c.388-296_388-295dup rs1483059162 0.06321
NM_172107.4(KCNQ2):c.515-164C>T rs77332976 0.06214
NM_172107.4(KCNQ2):c.1302-18_1302-17insTGTCTGTT rs1555854850 0.03520
NM_172107.4(KCNQ2):c.1148+117C>T rs118015498 0.02940
NM_172107.4(KCNQ2):c.*248C>T rs6122440 0.02850
NM_172107.4(KCNQ2):c.1888-60T>C rs111793741 0.01855
NM_172107.4(KCNQ2):c.-11C>T rs182089624 0.00704
NM_172107.4(KCNQ2):c.2106G>A (p.Ser702=) rs187252584 0.00635
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031 0.00509
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=) rs139587368 0.00506
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.1247+47G>A rs202113069 0.00252
NM_172107.4(KCNQ2):c.1763+47G>C rs77658489 0.00237
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974 0.00220
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.816+31C>T rs200661919 0.00153
NM_172107.4(KCNQ2):c.570C>T (p.Asn190=) rs116087798 0.00145
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.1631+38G>T rs376334369 0.00092
NM_172107.4(KCNQ2):c.1887+17G>A rs369457896 0.00091
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366 0.00089
NM_172107.4(KCNQ2):c.1764-25G>T rs373692171 0.00071
NM_172107.4(KCNQ2):c.1763+51C>T rs368562502 0.00062
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.1763+84G>A rs186324056 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.2266G>A (p.Gly756Ser) rs200909197 0.00034
NM_172107.4(KCNQ2):c.297-18C>T rs370109710 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.2065A>C (p.Ile689Leu) rs201701585 0.00022
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.1281A>G (p.Gly427=) rs781056597 0.00011
NM_172107.4(KCNQ2):c.1301+7C>T rs374877247 0.00011
NM_172107.4(KCNQ2):c.1632-18C>A rs368910668 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.1458C>T (p.Phe486=) rs141951341 0.00010
NM_172107.4(KCNQ2):c.2571C>T (p.Thr857=) rs764525788 0.00010
NM_172107.4(KCNQ2):c.2560C>T (p.Arg854Cys) rs373536274 0.00009
NM_172107.4(KCNQ2):c.*29C>T rs201401764 0.00006
NM_172107.4(KCNQ2):c.-46C>G rs572005014 0.00006
NM_172107.4(KCNQ2):c.2409C>T (p.Ser803=) rs374526673 0.00006
NM_172107.4(KCNQ2):c.2087C>T (p.Thr696Met) rs570139975 0.00005
NM_172107.4(KCNQ2):c.1023+9A>G rs201787699 0.00004
NM_172107.4(KCNQ2):c.1024-46C>T rs748824215 0.00004
NM_172107.4(KCNQ2):c.1149-20C>T rs754997316 0.00004
NM_172107.4(KCNQ2):c.1407C>T (p.Ala469=) rs1801385 0.00004
NM_172107.4(KCNQ2):c.1704C>T (p.Ile568=) rs144909985 0.00004
NM_172107.4(KCNQ2):c.1161G>A (p.Pro387=) rs147453497 0.00003
NM_172107.4(KCNQ2):c.315C>T (p.Ser105=) rs200224824 0.00003
NM_172107.4(KCNQ2):c.515-9G>A rs755243604 0.00003
NM_172107.4(KCNQ2):c.1887+30G>T rs377269898 0.00002
NM_172107.4(KCNQ2):c.1833G>A (p.Ala611=) rs564630217 0.00001
NM_172107.4(KCNQ2):c.2133G>A (p.Gln711=) rs946287354 0.00001
NM_172107.4(KCNQ2):c.2592C>T (p.Asp864=) rs536366837 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.888C>T (p.Thr296=) rs370760854 0.00001
NM_172107.3(KCNQ2):c.1302-18_1302-17insCGTCTGTC rs1555854857
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGCCTGTC rs1555854856
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCCGTC rs1555854855
NM_172107.3(KCNQ2):c.1302-18_1302-17insTGTCTGCC rs1555854852
NM_172107.4(KCNQ2):c.*23C>A rs371825912
NM_172107.4(KCNQ2):c.*295C>T rs34690549
NM_172107.4(KCNQ2):c.1118+69C>A rs142571798
NM_172107.4(KCNQ2):c.1118+69C>T rs142571798
NM_172107.4(KCNQ2):c.1149-43G>C rs75020642
NM_172107.4(KCNQ2):c.1248-223dup rs139786707
NM_172107.4(KCNQ2):c.1248-72C>T rs12481298
NM_172107.4(KCNQ2):c.128C>T (p.Ala43Val) rs749554385
NM_172107.4(KCNQ2):c.1302-11C>G rs371007020
NM_172107.4(KCNQ2):c.1302-11C>T rs371007020
NM_172107.4(KCNQ2):c.1302-18_1302-17insCTGTCTGA rs1555854852
NM_172107.4(KCNQ2):c.1302-18_1302-17insTCTGTCTC rs1555854853
NM_172107.4(KCNQ2):c.1302-18_1302-17insTCTGTCTT rs1555854853
NM_172107.4(KCNQ2):c.1302-205C>T rs199705502
NM_172107.4(KCNQ2):c.1302-20_1302-19insCTGTCTGC rs796052609
NM_172107.4(KCNQ2):c.1302-222A>G rs185309057
NM_172107.4(KCNQ2):c.1302-29TGTC[5] rs112006486
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.1632-181_1632-180del rs3215651
NM_172107.4(KCNQ2):c.1763+17C>A rs548507063
NM_172107.4(KCNQ2):c.1887+16C>A rs369329706
NM_172107.4(KCNQ2):c.1887+217T>C rs6011817
NM_172107.4(KCNQ2):c.388-140_388-139insGGGGCCCTTT rs11472004
NM_172107.4(KCNQ2):c.388-299_388-298del rs879328444
NM_172107.4(KCNQ2):c.691-128GTG[2] rs372494294
NM_172107.4(KCNQ2):c.691-141_691-140insTGGTGGTGA rs1568933640
NM_172107.4(KCNQ2):c.691-149G>A rs796175666
NM_172107.4(KCNQ2):c.691-165_691-164insTGA rs879666633
NM_172107.4(KCNQ2):c.691-170A>G rs202133311
NM_172107.4(KCNQ2):c.691-195_691-194insTGGTGG rs1568934026
NM_172107.4(KCNQ2):c.691-197A>G rs62208030
NM_172107.4(KCNQ2):c.691-205_691-204insT rs1568934111
NM_172107.4(KCNQ2):c.691-263ATGGTG[3] rs1451409107
NM_172107.4(KCNQ2):c.691-311GTG[5] rs747940691
NM_172107.4(KCNQ2):c.691-311GTG[6] rs747940691
NM_172107.4(KCNQ2):c.691-314_691-312del rs1348911644
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=) rs147882199

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