List of variants in gene RAD50 reported by Genetic Services Laboratory, University of Chicago

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 15

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile)	rs2230017	0.00469
NM_005732.4(RAD50):c.3153G>A (p.Leu1051=)	rs35800931	0.00325
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu)	rs28903085	0.00300
NM_005732.4(RAD50):c.980G>A (p.Arg327His)	rs28903091	0.00207
NM_005732.4(RAD50):c.379G>A (p.Val127Ile)	rs28903086	0.00146
NM_005732.4(RAD50):c.943G>T (p.Val315Leu)	rs28903090	0.00141
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser)	rs147366706	0.00079
NM_005732.4(RAD50):c.3036+5G>A	rs181016343	0.00078
NM_005732.4(RAD50):c.885+11G>A	rs117081789	0.00071
NM_005732.4(RAD50):c.260G>A (p.Arg87His)	rs374561375	0.00042
NM_005732.4(RAD50):c.2177G>A (p.Arg726His)	rs28903092	0.00025
NM_005732.4(RAD50):c.1211A>G (p.Gln404Arg)	rs200017020	0.00009
NM_005732.4(RAD50):c.1663A>G (p.Ile555Val)	rs201120953	0.00006
NM_005732.4(RAD50):c.1677C>G (p.His559Gln)	rs142619269
NM_005732.4(RAD50):c.2165dup (p.Glu723fs)	rs397507178

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.