List of variants in gene BRCA1 reported as pathogenic for Breast carcinoma

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)	rs28897672	0.00004
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)	rs80356962	0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)	rs41293465	0.00001
NM_007294.4(BRCA1):c.2131_2132del (p.Lys711fs)	rs398122653
NM_007294.4(BRCA1):c.2536G>T (p.Glu846Ter)	rs786203523
NM_007294.4(BRCA1):c.2802del (p.Asp936fs)	rs2053694038
NM_007294.4(BRCA1):c.2952del (p.Ile986fs)	rs80357627
NM_007294.4(BRCA1):c.3049G>T (p.Glu1017Ter)	rs80357004
NM_007294.4(BRCA1):c.4818del (p.Val1607fs)	rs1555580883
NM_007294.4(BRCA1):c.4936del (p.Val1646fs)	rs80357653
NM_007294.4(BRCA1):c.4986+6T>G	rs80358086
NM_007294.4(BRCA1):c.5102_5103del (p.Leu1701fs)	rs80357608
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)	rs28897696
NM_007294.4(BRCA1):c.5241del (p.Gly1748fs)	rs80357791
NM_007294.4(BRCA1):c.5258G>C (p.Arg1753Thr)	rs397509246
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)	rs80357783
NM_007294.4(BRCA1):c.788dup (p.Gly263_Ser264insTer)	rs886040319

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