ClinVar Miner

List of variants in gene KCNQ3 studied for Benign familial neonatal seizures 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
NM_004519.4(KCNQ3):c.1178T>C (p.Ile393Thr)
NM_004519.4(KCNQ3):c.1226C>G (p.Pro409Arg) rs149272208
NM_004519.4(KCNQ3):c.1241A>G (p.Glu414Gly) rs2303995
NM_004519.4(KCNQ3):c.1249_1250delinsAT (p.Glu417Met) rs1554625699
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) rs118192252
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.1885G>C (p.Val629Leu) rs185511111
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081
NM_004519.4(KCNQ3):c.2454C>T (p.Phe818=) rs375379466
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254
NM_004519.4(KCNQ3):c.2611C>G (p.Pro871Ala) rs200647826
NM_004519.4(KCNQ3):c.2614A>G (p.Ile872Val) rs199682667
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004519.4(KCNQ3):c.895G>A (p.Glu299Lys) rs118192247
NM_004519.4(KCNQ3):c.899T>C (p.Phe300Ser) rs1554627439
NM_004519.4(KCNQ3):c.914A>G (p.Asp305Gly) rs118192248
NM_004519.4(KCNQ3):c.925T>C (p.Trp309Arg) rs118192249
NM_004519.4(KCNQ3):c.929G>T (p.Gly310Val) rs118192250
NM_004519.4(KCNQ3):c.988C>T (p.Arg330Cys) rs118192251

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.