ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Gene type:
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Total variants: 5
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NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672
NM_007294.4(BRCA1):c.676del (p.Cys226fs) rs80357941
NM_007294.4(BRCA1):c.844_850dup (p.Gln284fs) rs80357989

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