ClinVar Miner

List of variants in gene ATRX reported as uncertain significance for Inborn genetic diseases

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_000489.5(ATRX):c.1041T>G (p.Ile347Met) rs199780997
NM_000489.5(ATRX):c.1694T>C (p.Ile565Thr) rs1557140924
NM_000489.5(ATRX):c.2304G>C (p.Lys768Asn) rs1557139920
NM_000489.5(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557
NM_000489.5(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767
NM_000489.5(ATRX):c.5271G>C (p.Glu1757Asp) rs141240580
NM_000489.5(ATRX):c.5540A>T (p.Tyr1847Phe) rs1057521987
NM_000489.5(ATRX):c.6409G>A (p.Ala2137Thr) rs1557060350
NM_000489.5(ATRX):c.6887A>G (p.Asn2296Ser) rs782274478
NM_000489.5(ATRX):c.7432C>G (p.Pro2478Ala) rs199543136

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.