ClinVar Miner

List of variants in gene KDM1A reported as uncertain significance for Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001009999.3(KDM1A):c.136G>A (p.Gly46Ser) rs144822945 0.00607
NM_001009999.3(KDM1A):c.160G>A (p.Ala54Thr) rs1358497272 0.00009
NM_001009999.3(KDM1A):c.131T>C (p.Leu44Pro) rs1641551328 0.00001
NM_001009999.3(KDM1A):c.1901C>T (p.Thr634Met) rs1363624048 0.00001
NM_001009999.3(KDM1A):c.1123_1126dup (p.Ile376fs)
NM_001009999.3(KDM1A):c.1720A>G (p.Lys574Glu) rs1553131717
NM_001009999.3(KDM1A):c.1739A>G (p.Asp580Gly) rs864309716
NM_001009999.3(KDM1A):c.1747G>C (p.Glu583Gln)
NM_001009999.3(KDM1A):c.1837G>A (p.Ala613Thr)
NM_001009999.3(KDM1A):c.1930G>A (p.Ala644Thr)
NM_001009999.3(KDM1A):c.1974del (p.Pro659fs)
NM_001009999.3(KDM1A):c.1975C>T (p.Pro659Ser) rs767582484
NM_001009999.3(KDM1A):c.211C>T (p.Pro71Ser)
NM_001009999.3(KDM1A):c.2435G>C (p.Gly812Ala)
NM_001009999.3(KDM1A):c.2563G>A (p.Gly855Arg)
NM_001009999.3(KDM1A):c.278C>A (p.Ser93Tyr) rs1011602988
NM_001009999.3(KDM1A):c.541G>C (p.Asp181His)
NM_001009999.3(KDM1A):c.711+1G>A

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.