ClinVar Miner

List of variants reported as benign for Dyskeratosis congenita, autosomal recessive 6; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
Download table as spreadsheet
NM_002582.4(PARN):c.1102A>T (p.Ser368Cys) rs138984302
NM_002582.4(PARN):c.1192+4C>T rs185546844
NM_002582.4(PARN):c.1263-8T>G rs182460499
NM_002582.4(PARN):c.1383T>C (p.Leu461=) rs143472178
NM_002582.4(PARN):c.1690G>A (p.Val564Ile) rs35722504
NM_002582.4(PARN):c.1741G>A (p.Gly581Arg) rs75007073
NM_002582.4(PARN):c.1761C>T (p.Ser587=) rs148052946
NM_002582.4(PARN):c.825C>T (p.His275=) rs374114285
NM_002582.4(PARN):c.840+6T>C rs59687658
NM_002582.4(PARN):c.840+6del rs531994703

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.