List of variants in gene BRCA1 reported as pathogenic by Genetics and Molecular Pathology, SA Pathology

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)	rs80357433	0.00001
NM_007294.4(BRCA1):c.514del (p.Gln172fs)	rs80357872	0.00001
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg)	rs80357164
NM_007294.4(BRCA1):c.1504_1508del (p.Leu502fs)	rs80357888
NM_007294.4(BRCA1):c.1621C>T (p.Gln541Ter)	rs80356904
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)	rs80357688
NM_007294.4(BRCA1):c.2110_2111del (p.Asn704fs)	rs80357814
NM_007294.4(BRCA1):c.2214dup (p.Lys739Ter)	rs80357574
NM_007294.4(BRCA1):c.2411_2412del (p.Gln804fs)	rs80357664
NM_007294.4(BRCA1):c.4357+6T>C	rs80358143
NM_007294.4(BRCA1):c.4484+1del	rs397509181
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	rs80357906
NM_007294.4(BRCA1):c.5324T>A (p.Met1775Lys)	rs41293463
NM_007294.4(BRCA1):c.547+1G>T	rs80358030
NM_007294.4(BRCA1):c.547+2T>A	rs80358047

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