ClinVar Miner

List of variants in gene BRCA2 reported as likely pathogenic by Mendelics

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Total variants: 13
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HGVS dbSNP
NM_000059.3(BRCA2):c.1495C>T (p.Gln499Ter) rs1566223700
NM_000059.3(BRCA2):c.2167_2169delinsCT (p.Ser723fs) rs1566226235
NM_000059.3(BRCA2):c.316+5G>A rs81002840
NM_000059.3(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.3(BRCA2):c.5800C>T (p.Gln1934Ter) rs886040610
NM_000059.3(BRCA2):c.5818G>T (p.Glu1940Ter) rs1566233278
NM_000059.3(BRCA2):c.6039del (p.Val2014fs) rs876660637
NM_000059.3(BRCA2):c.6290_6291insTA (p.Arg2099fs) rs1566234270
NM_000059.3(BRCA2):c.68-2A>G rs769152395
NM_000059.3(BRCA2):c.683del (p.Asn228fs) rs1566221288
NM_000059.3(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076
NM_000059.3(BRCA2):c.8755-1G>A rs81002812
NM_000059.3(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759

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