ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic by Mayo Clinic Genetic Testing Laboratories,Mayo Clinic

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Total variants: 12
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HGVS dbSNP
NM_007294.3(BRCA1):c.1176_1215del (p.Leu393fs) rs1555592157
NM_007294.3(BRCA1):c.1204del (p.Glu402fs) rs80357859
NM_007294.3(BRCA1):c.2071del (p.Arg691fs) rs80357688
NM_007294.3(BRCA1):c.2269del (p.Val757fs) rs80357583
NM_007294.3(BRCA1):c.2409_2410del (p.Ser803fs) rs1555589728
NM_007294.3(BRCA1):c.2867del (p.Ser956fs) rs1555588818
NM_007294.3(BRCA1):c.3481_3491del (p.Glu1161fs) rs80357877
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.3(BRCA1):c.5346G>A (p.Trp1782Ter) rs80357284
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914
NM_007299.4(BRCA1):c.1018C>T (p.Arg340Ter) rs41293455
NM_007299.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672

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