List of variants in gene BRIP1 reported as likely pathogenic by CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_032043.3(BRIP1):c.918+1G>A	rs587781655	0.00006
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)	rs587781292
NM_032043.3(BRIP1):c.2012del (p.Glu671fs)
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)	rs1257401983
NM_032043.3(BRIP1):c.637del (p.His213fs)

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