List of variants in gene BLM reported as uncertain significance by Cancer Genomics Group, Japanese Foundation For Cancer Research

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: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.2839A>G (p.Ile947Val)	rs189925962	0.00010
NM_000057.4(BLM):c.2293G>A (p.Val765Ile)	rs191789336	0.00009
NM_000057.4(BLM):c.178T>A (p.Leu60Ile)	rs138542210	0.00007
NM_000057.4(BLM):c.1044G>A (p.Met348Ile)	rs184657475	0.00006
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)	rs55880859	0.00004
NM_000057.4(BLM):c.3422A>G (p.Asn1141Ser)	rs770370129	0.00003
NM_000057.4(BLM):c.4022C>T (p.Ala1341Val)	rs201149857	0.00003
NM_000057.4(BLM):c.137A>G (p.Asn46Ser)	rs1237910576	0.00001
NM_000057.4(BLM):c.2744C>T (p.Ala915Val)	rs775026151	0.00001
NM_000057.4(BLM):c.3485A>G (p.Asn1162Ser)	rs1237460907	0.00001
NM_000057.4(BLM):c.3874G>A (p.Ala1292Thr)	rs757641454	0.00001
NM_000057.4(BLM):c.1334C>T (p.Pro445Leu)	rs1895952164
NM_000057.4(BLM):c.134A>G (p.Asn45Ser)	rs1555418242
NM_000057.4(BLM):c.715G>C (p.Asp239His)	rs200756519
NM_000057.4(BLM):c.719A>G (p.Asp240Gly)	rs757324067

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.