List of variants in gene MRE11 reported as benign for Ataxia-telangiectasia-like disorder

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: 26

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005591.4(MRE11):c.1225+19T>C	rs641936	0.36577
NM_005591.4(MRE11):c.403-6G>A	rs535801	0.28996
NM_005591.4(MRE11):c.1002C>G (p.Ser334Arg)	rs115244417	0.01348
NM_005591.4(MRE11):c.1994+10G>A	rs1805366	0.01130
NM_005591.4(MRE11):c.1032T>G (p.Leu344=)	rs11020793	0.00960
NM_005591.4(MRE11):c.2092A>G (p.Met698Val)	rs1805362	0.00548
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)	rs61749249	0.00399
NM_005591.4(MRE11):c.771A>G (p.Glu257=)	rs13447632	0.00301
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn)	rs116679717	0.00293
NM_005591.4(MRE11):c.1783+5G>C	rs142082313	0.00284
NM_005591.4(MRE11):c.969A>G (p.Pro323=)	rs13447633	0.00258
NM_005591.4(MRE11):c.822T>C (p.Leu274=)	rs137868143	0.00152
NM_005591.4(MRE11):c.426C>T (p.Asp142=)	rs3218740	0.00109
NM_005591.4(MRE11):c.1491C>T (p.Ile497=)	rs199634245	0.00021
NM_005591.4(MRE11):c.845+11T>C	rs140145979	0.00021
NM_005591.4(MRE11):c.81G>A (p.Glu27=)	rs190031653	0.00006
NM_005591.4(MRE11):c.1784-16T>G	rs200718476	0.00004
NM_005591.4(MRE11):c.1780A>G (p.Arg594Gly)	rs576878377	0.00001
NM_005591.4(MRE11):c.1098+17T>C	rs1805365
NM_005591.4(MRE11):c.154-12dup
NM_005591.4(MRE11):c.1563+13C>T
NM_005591.4(MRE11):c.315-14dup	rs35062043
NM_005591.4(MRE11):c.315-4del	rs35062043
NM_005591.4(MRE11):c.315-5_315-4dup	rs35062043
NM_005591.4(MRE11):c.402+14del
NM_005591.4(MRE11):c.659+11del

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.