ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000059.3(BRCA2):c.1736T>G (p.Leu579Ter) rs1131692274
NM_000059.3(BRCA2):c.3689del (p.Ser1230fs) rs80359398
NM_000059.3(BRCA2):c.5073dupA (p.Trp1692Metfs) rs80359479
NM_000059.3(BRCA2):c.631+2T>G rs81002899
NM_000059.3(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.3(BRCA2):c.8297del (p.Thr2766fs) rs80359705
NM_000059.3(BRCA2):c.8488-1G>A rs397507404

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