List of variants reported as likely pathogenic for Fanconi anemia complementation group J by Counsyl

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: 8

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)	rs137852986	0.00010
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)	rs368796923	0.00001
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)	rs587781985
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)	rs587778134
NM_032043.3(BRIP1):c.205+1del	rs1057517648
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter)	rs1057517643
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs)	rs763009188
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)	rs771028677

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.