ClinVar Miner

List of variants reported as likely benign for Bloom syndrome by Mendelics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
Download table as spreadsheet
HGVS dbSNP
NM_000057.4(BLM):c.1088-38C>T
NM_000057.4(BLM):c.1088-39C>T
NM_000057.4(BLM):c.1088-40T>C
NM_000057.4(BLM):c.2074+56G>A
NM_000057.4(BLM):c.2106T>A (p.Pro702=) rs529421306
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.4(BLM):c.2210_2211insA (p.Thr738fs)
NM_000057.4(BLM):c.2212_2213insTTC (p.Thr738delinsIlePro)
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.4(BLM):c.2784T>C (p.Asp928=) rs1032746564
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226
NM_000057.4(BLM):c.3019+17T>C
NM_000057.4(BLM):c.3592G>A (p.Val1198Met) rs142928725
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141
NM_000057.4(BLM):c.3875-6T>C
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr) rs527291754
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4077-10C>T rs145310008
NM_000057.4(BLM):c.963G>A (p.Thr321=)

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.