List of variants in gene BLM reported as likely benign by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 14

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.2160C>T (p.Ile720=)	rs28385028	0.00303
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)	rs28385141	0.00245
NM_000057.4(BLM):c.254G>C (p.Arg85Thr)	rs141503266	0.00213
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser)	rs146077918	0.00172
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)	rs142551229	0.00140
NM_000057.4(BLM):c.3849G>A (p.Gln1283=)	rs140524886	0.00115
NM_000057.4(BLM):c.3798T>G (p.Val1266=)	rs138831180	0.00043
NM_000057.4(BLM):c.780T>C (p.Thr260=)	rs55763079	0.00034
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)	rs145022945	0.00032
NM_000057.4(BLM):c.2739C>T (p.Leu913=)	rs759223856	0.00009
NM_000057.4(BLM):c.1785A>T (p.Ser595=)	rs79871543	0.00001
NM_000057.4(BLM):c.3585C>T (p.Ser1195=)	rs1023322113	0.00001
NM_000057.4(BLM):c.711C>T (p.Cys237=)	rs752961612	0.00001
NM_000057.4(BLM):c.234C>T (p.Pro78=)	rs970793829

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.