ClinVar Miner

List of variants reported as pathogenic for Dyskeratosis congenita, autosomal dominant 1

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NR_001566.3(TERC):n.228G>A rs141686314 0.00451
NR_001566.3(TERC):n.37A>G rs199422261 0.00003
NR_001566.3(TERC):n.35C>T rs199422260 0.00001
NC_000003.12:g.169763867_169764687del rs1553915517
NC_000003.12:g.169764651G>C rs199422286
NC_000003.12:g.169764745_169767720del
NC_000003.12:g.169764994del rs1777964165
NC_000003.12:g.169765299AG[1] rs199422255
NR_001566.3(TERC):n.100T>A rs199422269
NR_001566.3(TERC):n.107_108delGCinsAG rs199476393
NR_001566.3(TERC):n.108_111delCTGA rs199422270
NR_001566.3(TERC):n.116C>T rs199422272
NR_001566.3(TERC):n.143G>A rs199422274
NR_001566.3(TERC):n.204C>G rs199422277
NR_001566.3(TERC):n.211_224delCCTGCGGCGGGTCG rs199422278
NR_001566.3(TERC):n.2G>C rs199422257
NR_001566.3(TERC):n.408C>G rs199422284
NR_001566.3(TERC):n.48A>G rs199422262
NR_001566.3(TERC):n.52_55delCTAA rs199422263
NR_001566.3(TERC):n.52_86del35 rs199422264
NR_001566.3(TERC):n.79delC rs199422266
NR_001566.3(TERC):n.96_97delCT rs199422267
TERT:c.1710G>Y (p.Lys570Asn) rs1554041299

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.