ClinVar Miner

List of variants in gene KCNQ2 reported as benign for Early infantile epileptic encephalopathy

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
Download table as spreadsheet
HGVS dbSNP
NM_172107.4(KCNQ2):c.1065C>T (p.Asp355=) rs200395340
NM_172107.4(KCNQ2):c.1185G>A (p.Arg395=) rs35430888
NM_172107.4(KCNQ2):c.1407C>T (p.Ala469=) rs1801385
NM_172107.4(KCNQ2):c.1419C>T (p.Leu473=) rs370155790
NM_172107.4(KCNQ2):c.1458C>T (p.Phe486=) rs141951341
NM_172107.4(KCNQ2):c.1545G>C (p.Glu515Asp) rs117067974
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031
NM_172107.4(KCNQ2):c.1719C>T (p.Ala573=) rs61737409
NM_172107.4(KCNQ2):c.1833G>A (p.Ala611=) rs564630217
NM_172107.4(KCNQ2):c.2031G>A (p.Arg677=) rs35647984
NM_172107.4(KCNQ2):c.2065A>C (p.Ile689Leu) rs201701585
NM_172107.4(KCNQ2):c.2087C>T (p.Thr696Met) rs570139975
NM_172107.4(KCNQ2):c.2106G>A (p.Ser702=) rs187252584
NM_172107.4(KCNQ2):c.2235G>A (p.Pro745=) rs139587368
NM_172107.4(KCNQ2):c.2264A>G (p.Tyr755Cys) rs3746366
NM_172107.4(KCNQ2):c.2529C>T (p.Ser843=) rs140674819
NM_172107.4(KCNQ2):c.2535C>G (p.Leu845=) rs199621855
NM_172107.4(KCNQ2):c.2544G>A (p.Pro848=) rs147274045
NM_172107.4(KCNQ2):c.2556G>A (p.Pro852=) rs3810472
NM_172107.4(KCNQ2):c.2560C>T (p.Arg854Cys) rs373536274
NM_172107.4(KCNQ2):c.303C>G (p.Leu101=) rs145415996
NM_172107.4(KCNQ2):c.515-9G>A rs755243604
NM_172107.4(KCNQ2):c.570C>T (p.Asn190=) rs116087798
NM_172107.4(KCNQ2):c.714C>T (p.Ile238=) rs147882199
NM_172107.4(KCNQ2):c.754T>C (p.Leu252=) rs370174915
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=) rs770187706
NM_172107.4(KCNQ2):c.804C>T (p.Leu268=) rs775450377
NM_172107.4(KCNQ2):c.816+10G>T rs201012161
NM_172107.4(KCNQ2):c.888C>T (p.Thr296=) rs370760854

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.