ClinVar Miner

List of variants reported as likely benign for Dyskeratosis congenita, autosomal recessive 3

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001143992.2(WRAP53):c.1359C>T (p.Pro453=) rs35082161 0.00894
NM_001143992.2(WRAP53):c.807C>T (p.Arg269=) rs35307405 0.00385
NM_001143992.2(WRAP53):c.823-10C>T rs117192546 0.00352
NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=) rs148329158 0.00160
NM_001143992.2(WRAP53):c.407C>G (p.Pro136Arg) rs34067256 0.00138
NM_001143992.2(WRAP53):c.1537C>G (p.Arg513Gly) rs144549494 0.00058
NM_001143992.2(WRAP53):c.732C>T (p.Tyr244=) rs8071451 0.00048
NM_001143992.2(WRAP53):c.431+15C>T rs17880740 0.00027
NM_001143992.2(WRAP53):c.495C>T (p.Ser165=) rs147817526 0.00008
NM_001143992.2(WRAP53):c.780C>T (p.Phe260=) rs533794855 0.00007
NM_001143992.2(WRAP53):c.792C>T (p.Leu264=) rs143017192

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.