ClinVar Miner

List of variants in gene KCNQ3 reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555 0.00165
NM_004519.4(KCNQ3):c.1917C>T (p.Leu639=) rs78731303 0.00131
NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln) rs201328910 0.00034
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254 0.00021
NM_004519.4(KCNQ3):c.1226C>G (p.Pro409Arg) rs149272208 0.00009
NM_004519.4(KCNQ3):c.954C>A (p.Gly318=) rs143224896 0.00009
NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=) rs587781011 0.00008
NM_004519.4(KCNQ3):c.1564G>A (p.Val522Ile) rs143683496 0.00004
NM_004519.4(KCNQ3):c.1543C>G (p.Leu515Val) rs368013249 0.00003
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) rs118192252 0.00002
NM_004519.4(KCNQ3):c.1458T>A (p.Ser486Arg) rs886043116 0.00001
NM_004519.4(KCNQ3):c.1722T>C (p.Pro574=) rs1554622049 0.00001
NM_004519.4(KCNQ3):c.2391C>T (p.His797=) rs763446963 0.00001
NM_004519.4(KCNQ3):c.604+10G>T rs541587196 0.00001
NM_004519.4(KCNQ3):c.867G>A (p.Val289=) rs570123407 0.00001
NM_004519.4(KCNQ3):c.127G>A (p.Val43Met) rs794726918
NM_004519.4(KCNQ3):c.1529A>C (p.Asp510Ala) rs1554622841
NM_004519.4(KCNQ3):c.154C>G (p.Gln52Glu) rs1327292650
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004519.4(KCNQ3):c.788C>T (p.Thr263Met) rs1479652323

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.