List of variants in gene BRCA1 reported as pathogenic by Pathway Genomics

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.594-2A>C	rs80358033	0.00003
NM_007294.4(BRCA1):c.4357+1G>A	rs80358027	0.00001
NM_007294.4(BRCA1):c.1556del (p.Lys519fs)	rs80357662
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter)	rs80357086
NM_007294.4(BRCA1):c.2433del (p.Lys812fs)	rs80357524
NM_007294.4(BRCA1):c.2457del (p.Asp821fs)	rs80357669
NM_007294.4(BRCA1):c.2685_2686del (p.Pro897fs)	rs80357636
NM_007294.4(BRCA1):c.2864C>A (p.Ser955Ter)	rs80357295
NM_007294.4(BRCA1):c.3048_3052dup (p.Asn1018fs)	rs80357856
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)	rs80357389
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)	rs80356885
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)	rs80357906
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)	rs80357914

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