List of variants in gene BRCA1 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)	rs41293459	0.00001
NM_007294.3(BRCA1):c.5543_5545delAGGins43 (p.?)
NM_007294.4(BRCA1):c.116G>T (p.Cys39Phe)	rs80357498
NM_007294.4(BRCA1):c.1386dup (p.Lys463fs)	rs80357722
NM_007294.4(BRCA1):c.1440_1441insA (p.Leu481fs)	rs80357778
NM_007294.4(BRCA1):c.2643del (p.Glu881fs)	rs397508989
NM_007294.4(BRCA1):c.441+2T>A	rs397509173
NM_007294.4(BRCA1):c.5116G>C (p.Gly1706Arg)	rs886040864
NM_007294.4(BRCA1):c.5332_5332+6delinsT	rs2153051225
NM_007294.4(BRCA1):c.53T>A (p.Met18Lys)	rs80356929
NM_007294.4(BRCA1):c.5453A>G (p.Asp1818Gly)	rs80357477

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