ClinVar Miner

List of variants in gene BRCA1 reported as likely pathogenic by Mendelics

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Total variants: 6
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HGVS dbSNP
NM_007294.3(BRCA1):c.192T>G (p.Cys64Trp) rs587781632
NM_007294.3(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.3(BRCA1):c.4568del (p.Pro1523Hisfs)
NM_007294.3(BRCA1):c.4963T>C (p.Ser1655Pro) rs1057518639
NM_007294.3(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104

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