ClinVar Miner

List of variants studied for intellectual disability, autosomal dominant 46 by New York Genome Center

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_019842.4(KCNQ5):c.2726G>A (p.Arg909Gln) rs184951305 0.00007
NM_019842.4(KCNQ5):c.2354T>C (p.Val785Ala) rs747610703 0.00006
NM_019842.4(KCNQ5):c.1312C>G (p.Arg438Gly) rs750114221 0.00004
NM_019842.4(KCNQ5):c.2366A>T (p.Glu789Val) rs771383058 0.00002
NM_019842.4(KCNQ5):c.2444T>G (p.Leu815Arg) rs1204507146
NM_019842.4(KCNQ5):c.292A>G (p.Ser98Gly) rs2154471235
NM_019842.4(KCNQ5):c.68CGG[7] (p.Ala26_Ala27dup) rs568022266

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.