List of variants in gene BRIP1 reported as benign for Hereditary cancer-predisposing syndrome

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: 31

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=)	rs4986765	0.74166
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro)	rs4986764	0.61453
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=)	rs4986763	0.60694
NM_032043.3(BRIP1):c.94-18T>G	rs2138005	0.03086
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val)	rs111536363	0.00480
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)	rs4988345	0.00363
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)	rs4988346	0.00305
NM_032043.3(BRIP1):c.2097+7G>A	rs4988352	0.00271
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)	rs4988347	0.00197
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=)	rs75091137	0.00194
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=)	rs61754141	0.00173
NM_032043.3(BRIP1):c.2061G>C (p.Val687=)	rs112414873	0.00153
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)	rs28997570	0.00113
NM_032043.3(BRIP1):c.2257+19A>C	rs77851913	0.00079
NM_032043.3(BRIP1):c.918+15T>A	rs117820198	0.00078
NM_032043.3(BRIP1):c.195A>G (p.Gln65=)	rs141436143	0.00076
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)	rs145855459	0.00076
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr)	rs116952709	0.00055
NM_032043.3(BRIP1):c.317G>A (p.Arg106His)	rs143615668	0.00048
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)	rs28997571	0.00034
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser)	rs550707862	0.00017
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)	rs201869624	0.00016
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=)	rs202228407	0.00013
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys)	rs45437094	0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu)	rs759031349	0.00006
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg)	rs45501097	0.00002
NM_032043.3(BRIP1):c.1474-3T>C	rs552752779	0.00001
NM_032043.3(BRIP1):c.1935+5GTT[2]	rs730881641
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala)	rs45617634
NM_032043.3(BRIP1):c.380-17del	rs545021924
NM_032043.3(BRIP1):c.380-17dup	rs545021924

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.