ClinVar Miner

List of variants in gene BRCA1 reported by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_007294.4(BRCA1):c.5123C>T (p.Ala1708Val) rs28897696 0.00008
NM_007294.4(BRCA1):c.1243G>A (p.Val415Ile) rs587782770 0.00006
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294 0.00006
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg) rs80357079 0.00003
NM_007294.4(BRCA1):c.5075-6C>A rs397507240 0.00003
NM_007294.4(BRCA1):c.1384G>A (p.Gly462Arg) rs80357221 0.00001
NM_007294.4(BRCA1):c.2416G>A (p.Ala806Thr) rs80357144 0.00001
NM_007294.4(BRCA1):c.2609C>T (p.Ala870Val) rs1060502324 0.00001
NM_007294.4(BRCA1):c.470C>G (p.Ser157Cys) rs80357045 0.00001
NM_007294.4(BRCA1):c.5481G>A (p.Met1827Ile) rs587782432 0.00001
NM_007294.4(BRCA1):c.107C>A (p.Ser36Tyr) rs183557525
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs) rs80357971
NM_007294.4(BRCA1):c.2776A>G (p.Thr926Ala)
NM_007294.4(BRCA1):c.3048T>G (p.Asn1016Lys) rs879255482
NM_007294.4(BRCA1):c.4186-2A>G rs878854950
NM_007294.4(BRCA1):c.5074G>A (p.Asp1692Asn) rs80187739
NM_007294.4(BRCA1):c.5359T>C (p.Cys1787Arg) rs80357065
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914

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