ClinVar Miner

List of variants in gene KCNQ2 reported as benign for central nervous system disorder

Included ClinVar conditions (2490):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 56
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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.388-26G>T rs6062939 0.21189
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.1302-18_1302-17insTGTCTGTT rs1555854850 0.03520
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.1545G>C (p.Glu515Asp) rs117067974 0.00220
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.1065C>T (p.Asp355=) rs200395340 0.00105
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.81G>A (p.Leu27=) rs373897282 0.00054
NM_172107.4(KCNQ2):c.1185G>A (p.Arg395=) rs35430888 0.00052
NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=) rs140674819 0.00045
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.297-10C>G rs763193303 0.00013
NM_172107.4(KCNQ2):c.1281A>G (p.Gly427=) rs781056597 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.2560C>T (p.Arg854Cys) rs373536274 0.00009
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser) rs587780369 0.00008
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=) rs770187706 0.00006
NM_172107.4(KCNQ2):c.2087C>T (p.Thr696Met) rs570139975 0.00005
NM_172107.4(KCNQ2):c.1407C>T (p.Ala469=) rs1801385 0.00004
NM_172107.4(KCNQ2):c.2253G>A (p.Ser751=) rs552151799 0.00004
NM_172107.4(KCNQ2):c.816+10G>T rs201012161 0.00004
NM_172107.4(KCNQ2):c.515-9G>A rs755243604 0.00003
NM_172107.4(KCNQ2):c.1833G>A (p.Ala611=) rs564630217 0.00001
NM_172107.4(KCNQ2):c.2592C>T (p.Asp864=) rs536366837 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_172107.4(KCNQ2):c.1118+1G>A rs397507449
NM_172107.4(KCNQ2):c.1149-20del rs2145637812
NM_172107.4(KCNQ2):c.1149-3del
NM_172107.4(KCNQ2):c.1302-11C>G rs371007020
NM_172107.4(KCNQ2):c.1302-11C>T rs371007020
NM_172107.4(KCNQ2):c.1302-19_1302-18insTGTCTGTT rs765336709
NM_172107.4(KCNQ2):c.1302-29TGTC[4] rs112006486
NM_172107.4(KCNQ2):c.1302-29TGTC[5] rs112006486
NM_172107.4(KCNQ2):c.1302-29TGTC[6] rs112006486
NM_172107.4(KCNQ2):c.1503C>G (p.Ala501=) rs1801545
NM_172107.4(KCNQ2):c.1526-3del rs974502886
NM_172107.4(KCNQ2):c.1526-8dup rs974502886
NM_172107.4(KCNQ2):c.1632-1G>T rs118192233
NM_172107.4(KCNQ2):c.297-3del rs2145790004
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=) rs147882199

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