ClinVar Miner

List of variants reported as likely benign for Bloom syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
Download table as spreadsheet
NM_000057.3(BLM):c.1122T>C (p.His374=) rs28385009
NM_000057.3(BLM):c.2603C>T (p.Pro868Leu) rs2227935
NM_000057.3(BLM):c.3102G>A (p.Thr1034=) rs2227933
NM_000057.3(BLM):c.3531C>A (p.Ala1177=) rs2227934
NM_000057.3(BLM):c.3945C>T (p.Leu1315=) rs1063147
NM_000057.3(BLM):c.3961G>A (p.Val1321Ile) rs7167216
NM_000057.3(BLM):c.419A>G (p.Glu140Gly) rs35886055
NM_000057.3(BLM):c.893C>T (p.Thr298Met) rs28384991

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.