List of variants in gene BRCA1 reported as likely pathogenic for multiple congenital anomalies/dysmorphic syndrome

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_007294.4(BRCA1):c.122A>T (p.His41Leu)	rs80357276
NM_007294.4(BRCA1):c.287A>G (p.Asp96Gly)	rs864622444
NM_007294.4(BRCA1):c.4987-5T>C	rs397509214
NM_007294.4(BRCA1):c.5074+3A>G	rs80358181
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)	rs55770810
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)	rs80357104
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)	rs398122697
NM_007294.4(BRCA1):c.594_597delTGTG	rs797045175

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