List of variants reported as benign for Fanconi anemia complementation group J by Illumina Laboratory Services, Illumina

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 24

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.*3514T>G	rs10744996	0.69323
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro)	rs4986764	0.61316
NM_032043.3(BRIP1):c.*483C>T	rs7213430	0.61151
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=)	rs4986763	0.60614
NM_032043.3(BRIP1):c.-205G>A	rs2048718	0.42481
NM_032043.3(BRIP1):c.*2090G>C	rs60657820	0.38290
NM_032043.3(BRIP1):c.*3488A>T	rs11079454	0.33474
NM_032043.3(BRIP1):c.-31+12G>A	rs4988340	0.24985
NM_032043.3(BRIP1):c.*2241T>C	rs76889595	0.05966
NM_032043.3(BRIP1):c.*4000T>C	rs8077553	0.03559
NM_032043.3(BRIP1):c.*1374T>C	rs59115933	0.03494
NM_032043.3(BRIP1):c.*172G>C	rs111898257	0.01099
NM_032043.3(BRIP1):c.*1820C>T	rs114037902	0.00928
NM_032043.3(BRIP1):c.*2538G>A	rs150080122	0.00610
NM_032043.3(BRIP1):c.*616A>G	rs116292412	0.00570
NM_032043.3(BRIP1):c.*280G>C	rs189935192	0.00553
NM_032043.3(BRIP1):c.-197C>A	rs180948389	0.00518
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val)	rs111536363	0.00480
NM_032043.3(BRIP1):c.*1263A>G	rs73991940	0.00340
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)	rs4988347	0.00197
NM_032043.3(BRIP1):c.*3450T>C	rs74859843	0.00088
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg)	rs45501097	0.00002
NM_032043.3(BRIP1):c.*158T>C	rs1978111

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.