ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic by Genome Diagnostics Laboratory,University Medical Center Utrecht

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Total variants: 17
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HGVS dbSNP
NM_007294.3(BRCA1):c.2685_2686del (p.Pro897fs) rs80357636
NM_007294.3(BRCA1):c.2989_2990dup (p.Asn997fs) rs80357829
NM_007294.3(BRCA1):c.3718C>T (p.Gln1240Ter) rs80356903
NM_007294.3(BRCA1):c.3820dupG (p.Val1274Glyfs) rs80357616
NM_007294.3(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433
NM_007294.3(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.3(BRCA1):c.5216A>T (p.Asp1739Val) rs80357227
NM_007294.3(BRCA1):c.5251C>T (p.Arg1751Ter) rs80357123
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007299.4(BRCA1):c.1018C>T (p.Arg340Ter) rs41293455
NM_007299.4(BRCA1):c.1965+1G>A rs80358150
NM_007299.4(BRCA1):c.788-751G>T rs28897686
NM_007300.4(BRCA1):c.2338C>T (p.Gln780Ter) rs80356945
NM_007300.4(BRCA1):c.2722G>T (p.Glu908Ter) rs80356978
NM_007300.4(BRCA1):c.5137+3A>G rs80358181
NM_007300.4(BRCA1):c.5530G>A (p.Ala1844Thr) rs80357212
NM_007300.4(BRCA1):c.5566C>T (p.Arg1856Ter) rs41293465

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