ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by Gharavi Laboratory,Columbia University

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Gene type:
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Total variants: 8
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HGVS dbSNP
NM_000059.3(BRCA2):c.1408dupG (p.Glu470Glyfs) rs80359284
NM_000059.3(BRCA2):c.2623_2624delGT (p.Val875Glnfs) rs876658928
NM_000059.3(BRCA2):c.5073dupA (p.Trp1692Metfs) rs80359479
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000059.3(BRCA2):c.9592_9593del (p.Cys3198Tyrfs)

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