ClinVar Miner

List of variants in gene KDM5C reported as likely benign by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 25
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_004187.5(KDM5C):c.4637G>A (p.Arg1546Gln) rs139569882 0.00051
NM_004187.5(KDM5C):c.3990C>G (p.Ala1330=) rs143291826 0.00040
NM_004187.5(KDM5C):c.2595C>T (p.Cys865=) rs371450943 0.00021
NM_004187.5(KDM5C):c.536G>A (p.Arg179His) rs201805773 0.00019
NM_004187.5(KDM5C):c.4039-4G>A rs371746707 0.00018
NM_004187.5(KDM5C):c.3660C>T (p.Leu1220=) rs373545419 0.00008
NM_004187.5(KDM5C):c.3897A>G (p.Glu1299=) rs782180827 0.00001
NM_004187.5(KDM5C):c.*124G>C
NM_004187.5(KDM5C):c.*130C>A
NM_004187.5(KDM5C):c.1353C>T (p.Ser451=)
NM_004187.5(KDM5C):c.1593G>A (p.Pro531=)
NM_004187.5(KDM5C):c.2049C>T (p.Ala683=)
NM_004187.5(KDM5C):c.2095C>T (p.Leu699=)
NM_004187.5(KDM5C):c.2139G>T (p.Thr713=)
NM_004187.5(KDM5C):c.2211C>G (p.Leu737=) rs1569264078
NM_004187.5(KDM5C):c.2278C>T (p.Leu760=)
NM_004187.5(KDM5C):c.2373T>G (p.Leu791=)
NM_004187.5(KDM5C):c.2511A>G (p.Glu837=)
NM_004187.5(KDM5C):c.2745G>A (p.Val915=) rs1440517448
NM_004187.5(KDM5C):c.2919G>A (p.Leu973=) rs1934884363
NM_004187.5(KDM5C):c.3174C>G (p.Gly1058=) rs782153358
NM_004187.5(KDM5C):c.3490C>T (p.Leu1164=) rs2146823630
NM_004187.5(KDM5C):c.3652C>T (p.Arg1218Cys)
NM_004187.5(KDM5C):c.3981C>T (p.Tyr1327=)
NM_004187.5(KDM5C):c.936A>G (p.Leu312=) rs2073725221

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.