ClinVar Miner

List of variants reported as likely pathogenic for Dyskeratosis congenita, autosomal recessive, 5; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
Download table as spreadsheet
HGVS dbSNP
NC_000020.10:g.(?_62292641)_(62327221_?)del
NC_000020.10:g.(?_62324287_62324806del
NM_001283009.2(RTEL1):c.1191+1G>A
NM_001283009.2(RTEL1):c.1191+1G>C
NM_001283009.2(RTEL1):c.1236_1266+47del
NM_001283009.2(RTEL1):c.1266+2T>G
NM_001283009.2(RTEL1):c.1266+3_1266+80del
NM_001283009.2(RTEL1):c.2265+1G>T
NM_001283009.2(RTEL1):c.2782_2992+170del
NM_001283009.2(RTEL1):c.302-8_303del
NM_001283009.2(RTEL1):c.3343+1G>C
NM_001283009.2(RTEL1):c.3715_3716del (p.Ala1240fs) rs1363658406
NM_001283009.2(RTEL1):c.3787del (p.Gln1263fs)
NM_001283009.2(RTEL1):c.901_919+72del rs1569090870
NM_016434.3(RTEL1):c.1596-1_1596delinsAA rs1601163764
NM_032957.4(RTEL1):c.2686C>T (p.Arg896Ter) rs961593162
NM_032957.4(RTEL1):c.3182-2A>C rs377461417
NM_032957.4(RTEL1):c.3182-2A>T rs377461417

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.