ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic by Michigan Medical Genetics Laboratories,University of Michigan

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Total variants: 42
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HGVS dbSNP
NM_007294.3(BRCA1):c.1016del (p.Lys339fs) rs80357569
NM_007294.3(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer) rs80359880
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.3(BRCA1):c.1480C>T (p.Gln494Ter) rs80357010
NM_007294.3(BRCA1):c.1874_1877dupTAGT (p.Val627Serfs) rs80357516
NM_007294.3(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.3(BRCA1):c.1A>G (p.Met1Val) rs80357287
NM_007294.3(BRCA1):c.2125_2126insA (p.Phe709fs) rs80357871
NM_007294.3(BRCA1):c.2192_2196del (p.Lys731fs) rs397508946
NM_007294.3(BRCA1):c.2331T>A (p.Tyr777Ter) rs80357444
NM_007294.3(BRCA1):c.2457del (p.Asp821fs) rs80357669
NM_007294.3(BRCA1):c.2475del (p.Asp825fs) rs80357970
NM_007294.3(BRCA1):c.2563C>T (p.Gln855Ter) rs80357131
NM_007294.3(BRCA1):c.2766del (p.Val923fs) rs80357812
NM_007294.3(BRCA1):c.2940del (p.Pro981fs) rs80357876
NM_007294.3(BRCA1):c.3018_3021del (p.His1006fs) rs80357749
NM_007294.3(BRCA1):c.3178G>T (p.Glu1060Ter) rs80357424
NM_007294.3(BRCA1):c.329dup (p.Glu111fs) rs80357604
NM_007294.3(BRCA1):c.3331_3334del (p.Gln1111fs) rs80357701
NM_007294.3(BRCA1):c.3462dup (p.Asp1155fs) rs80357857
NM_007294.3(BRCA1):c.3598C>T (p.Gln1200Ter) rs62625307
NM_007294.3(BRCA1):c.4057G>T (p.Glu1353Ter) rs80357178
NM_007294.3(BRCA1):c.4357+1G>A rs80358027
NM_007294.3(BRCA1):c.4574_4575del (p.Gln1525fs) rs80357813
NM_007294.3(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433
NM_007294.3(BRCA1):c.4754_4755del (p.Pro1585fs) rs80357837
NM_007294.3(BRCA1):c.5030_5033del (p.Thr1677fs) rs80357580
NM_007294.3(BRCA1):c.5179A>T (p.Lys1727Ter) rs80357347
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.3(BRCA1):c.5284del (p.Arg1762fs) rs80357684
NM_007294.3(BRCA1):c.5346G>A (p.Trp1782Ter) rs80357284
NM_007294.3(BRCA1):c.5444G>A (p.Trp1815Ter) rs80356962
NM_007294.3(BRCA1):c.66_67AG[1] (p.Glu23fs) rs80357914
NM_007298.3(BRCA1):c.787+1461_787+1465del rs397508954
NM_007298.3(BRCA1):c.787+597dup rs80357722
NM_007298.3(BRCA1):c.787+813del rs869320776
NM_007298.3(BRCA1):c.787+99del rs869320786
NM_007299.4(BRCA1):c.1018C>T (p.Arg340Ter) rs41293455
NM_007299.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672
NM_007299.4(BRCA1):c.213-12A>G rs80358163
NM_007299.4(BRCA1):c.427G>T (p.Glu143Ter) rs80356991
NM_007300.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898

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