ClinVar Miner

List of variants reported as likely pathogenic for Dyskeratosis congenita

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 16
Download table as spreadsheet
NM_001283009.1(RTEL1):c.3791G>A (p.Arg1264His) rs201540674
NM_001363.5(DKC1):c.109_111del (p.Leu37del) rs137854489
NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr) rs1569558474
NM_016434.3(RTEL1):c.1482-1G>A rs863225129
NM_016434.3(RTEL1):c.2413+1G>C rs776744306
NM_016434.3(RTEL1):c.2812del (p.Leu938fs) rs1449687529
NM_025099.6(CTC1):c.2758+1G>T rs200609323
NM_025099.6(CTC1):c.775G>A (p.Val259Met) rs387907080
NM_032957.4(RTEL1):c.1548G>T (p.Met516Ile) rs370343781
NM_032957.4(RTEL1):c.2941C>T (p.Arg981Trp) rs398123018
NM_032957.4(RTEL1):c.3028C>T rs373740199
NM_032957.4(RTEL1):c.49C>T (p.Pro17Ser) rs1555899096
NM_198253.3(TERT):c.2011C>G (p.Arg671Gly) rs1060503011
NM_198253.3(TERT):c.2058C>G (p.Ile686Met) rs745590324
NM_198253.3(TERT):c.3150G>C (p.Lys1050Asn) rs373400596

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.