ClinVar Miner

List of variants in gene BRCA1 reported as pathogenic by Genologica Medica

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.1687C>T (p.Gln563Ter) rs80356898 0.00001
NM_007294.4(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463 0.00001
NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter) rs80357215
NM_007294.4(BRCA1):c.1121_1123delinsT (p.Thr374fs) rs273897652
NM_007294.4(BRCA1):c.115T>C (p.Cys39Arg) rs80357164
NM_007294.4(BRCA1):c.1651_1652insC (p.Ser551fs) rs886039961
NM_007294.4(BRCA1):c.1733_1734del (p.Ser578fs) rs886037991
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.2527del (p.Thr843fs) rs1085308034
NM_007294.4(BRCA1):c.2921T>A (p.Leu974Ter) rs80356872
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter) rs41293455
NM_007294.4(BRCA1):c.4485-2A>G rs80358054
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp) rs55770810
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu) rs28897696
NM_007294.4(BRCA1):c.5154G>A (p.Trp1718Ter) rs80357239
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5278-1G>T rs80358099
NM_007294.4(BRCA1):c.5419del (p.Ile1807fs) rs80357934
NM_007294.4(BRCA1):c.5434C>G (p.Pro1812Ala) rs1800751
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007294.4(BRCA1):c.70_71insTGTC (p.Cys24fs) rs80357536
NM_007294.4(BRCA1):c.815_824dup (p.Thr276fs) rs387906563
NM_007294.4(BRCA1):c.845C>A (p.Ser282Ter) rs786203027

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