ClinVar Miner

List of variants reported as likely pathogenic for Dyskeratosis congenita by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_025099.6(CTC1):c.2960G>A (p.Arg987Gln) rs769617113 0.00003
NM_025099.6(CTC1):c.1818+1G>A rs773716148 0.00001
NM_025099.6(CTC1):c.2385+2T>C rs1597378045 0.00001
NM_025099.6(CTC1):c.2386-1G>A rs199861310 0.00001
NM_025099.6(CTC1):c.2518C>T (p.Arg840Trp) rs373905859 0.00001
NM_001099274.3(TINF2):c.850A>G (p.Thr284Ala) rs199422314
NM_001099274.3(TINF2):c.860T>C (p.Leu287Pro) rs199422316
NM_001099274.3(TINF2):c.869T>C (p.Phe290Ser)
NM_001363.5(DKC1):c.109_111del (p.Leu37del) rs137854489
NM_001363.5(DKC1):c.149C>A (p.Ser50Tyr) rs1569558474
NM_001363.5(DKC1):c.196A>G (p.Thr66Ala) rs121912297
NM_001363.5(DKC1):c.5C>T (p.Ala2Val) rs121912303
NM_025099.6(CTC1):c.1077+1G>A
NM_025099.6(CTC1):c.1207-1G>C
NM_025099.6(CTC1):c.1617+1G>T rs1201400384
NM_025099.6(CTC1):c.2385+1G>C rs2151508864
NM_025099.6(CTC1):c.3221+2T>C
NM_025099.6(CTC1):c.33+2T>G rs2151564155
NM_025099.6(CTC1):c.3387+1G>A rs1242486415
NM_025099.6(CTC1):c.3387+1G>C
NM_025099.6(CTC1):c.3583C>T (p.Arg1195Ter) rs199473682
NM_025099.6(CTC1):c.436-1G>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.