List of variants in gene BLM reported as not provided

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: 32

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile)	rs7167216	0.08093
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu)	rs2227935	0.06742
NM_000057.4(BLM):c.419A>G (p.Glu140Gly)	rs35886055	0.00958
NM_000057.4(BLM):c.410A>G (p.Lys137Arg)	rs28384988	0.00434
NM_000057.4(BLM):c.893C>T (p.Thr298Met)	rs28384991	0.00346
NM_000057.4(BLM):c.1928G>A (p.Arg643His)	rs12720097	0.00278
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.2263A>G (p.Lys755Glu)	rs142551229	0.00140
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)	rs146504061	0.00056
NM_000057.4(BLM):c.842A>C (p.His281Pro)	rs202042636	0.00014
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln)	rs201770808	0.00011
NM_000057.4(BLM):c.178T>A (p.Leu60Ile)	rs138542210	0.00007
NM_000057.4(BLM):c.3558+1G>T	rs148969222	0.00006
NM_000057.4(BLM):c.715G>A (p.Asp239Asn)	rs200756519	0.00006
NM_000057.4(BLM):c.2371C>T (p.Arg791Cys)	rs55880859	0.00004
NM_000057.4(BLM):c.847A>G (p.Thr283Ala)	rs149598003	0.00004
NM_000057.4(BLM):c.98C>T (p.Ser33Leu)	rs139282091	0.00004
NM_000057.4(BLM):c.1877A>T (p.Tyr626Phe)	rs374569385	0.00002
NM_000057.4(BLM):c.1741A>G (p.Thr581Ala)	rs587778108	0.00001
NM_000057.4(BLM):c.1913A>C (p.Asn638Thr)	rs587778110	0.00001
NM_000057.4(BLM):c.3278C>T (p.Ser1093Leu)	rs367543017	0.00001
NM_000057.4(BLM):c.3637G>A (p.Glu1213Lys)	rs28385142	0.00001
NM_000057.4(BLM):c.1712T>C (p.Met571Thr)	rs587778109
NM_000057.4(BLM):c.1722_1724delinsTAA (p.Leu574_Ala575delinsPheLys)	rs587778107
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)	rs113993962
NM_000057.4(BLM):c.2407dup (p.Trp803fs)	rs367543012
NM_000057.4(BLM):c.2858T>C (p.Ile953Thr)	rs587778102
NM_000057.4(BLM):c.376C>G (p.Pro126Ala)	rs587778106
NM_000057.4(BLM):c.387_389del (p.Lys130del)	rs587778105
NM_000057.4(BLM):c.4069G>C (p.Ala1357Pro)	rs587778103
NM_000057.4(BLM):c.4102T>C (p.Ser1368Pro)	rs587778104

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.