ClinVar Miner

List of variants in gene KCNQ5 studied for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 37
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019842.4(KCNQ5):c.972A>G (p.Gly324=) rs138701359 0.00220
NM_019842.4(KCNQ5):c.1575C>A (p.Ile525=) rs777386945 0.00014
NM_019842.4(KCNQ5):c.2726G>A (p.Arg909Gln) rs184951305 0.00007
NM_019842.4(KCNQ5):c.2366A>T (p.Glu789Val) rs771383058 0.00002
NM_019842.4(KCNQ5):c.1021C>A (p.Leu341Ile) rs1135401956
NM_019842.4(KCNQ5):c.1040G>C (p.Gly347Ala) rs1775232605
NM_019842.4(KCNQ5):c.1076G>A (p.Arg359His)
NM_019842.4(KCNQ5):c.1106C>A (p.Pro369Gln) rs1135401958
NM_019842.4(KCNQ5):c.1106C>G (p.Pro369Arg) rs1135401958
NM_019842.4(KCNQ5):c.1106C>T (p.Pro369Leu) rs1135401958
NM_019842.4(KCNQ5):c.1135C>G (p.Arg379Gly)
NM_019842.4(KCNQ5):c.1248-3590A>G
NM_019842.4(KCNQ5):c.1286G>T (p.Ser429Ile) rs1135401957
NM_019842.4(KCNQ5):c.1291A>T (p.Arg431Trp) rs1776322078
NM_019842.4(KCNQ5):c.1312C>T (p.Arg438Ter) rs750114221
NM_019842.4(KCNQ5):c.1501G>A (p.Asp501Asn) rs1582480404
NM_019842.4(KCNQ5):c.1604G>A (p.Arg535Gln)
NM_019842.4(KCNQ5):c.1667G>C (p.Gly556Ala)
NM_019842.4(KCNQ5):c.1676A>G (p.Asp559Gly)
NM_019842.4(KCNQ5):c.1710-2A>G
NM_019842.4(KCNQ5):c.1876A>G (p.Ile626Val)
NM_019842.4(KCNQ5):c.1985A>G (p.Asp662Gly)
NM_019842.4(KCNQ5):c.2228del (p.Ala743fs) rs2150527930
NM_019842.4(KCNQ5):c.2285G>A (p.Arg762Lys)
NM_019842.4(KCNQ5):c.2444T>G (p.Leu815Arg) rs1204507146
NM_019842.4(KCNQ5):c.2478G>C (p.Leu826Phe) rs1765738668
NM_019842.4(KCNQ5):c.2775C>A (p.Ser925Arg)
NM_019842.4(KCNQ5):c.2788A>C (p.Lys930Gln) rs1765753921
NM_019842.4(KCNQ5):c.434T>G (p.Val145Gly) rs1135401955
NM_019842.4(KCNQ5):c.522G>C (p.Glu174Asp) rs1771727703
NM_019842.4(KCNQ5):c.532C>T (p.Arg178Ter) rs1554201137
NM_019842.4(KCNQ5):c.545C>T (p.Ala182Val)
NM_019842.4(KCNQ5):c.688G>A (p.Ala230Thr)
NM_019842.4(KCNQ5):c.730C>T (p.Arg244Cys) rs1314919218
NM_019842.4(KCNQ5):c.824dup (p.Leu275fs) rs2150391860
NM_019842.4(KCNQ5):c.860T>C (p.Val287Ala)
NM_019842.4(KCNQ5):c.875A>G (p.Asn292Ser)

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.