ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne

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Total variants: 30
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HGVS dbSNP
NM_000059.3(BRCA2):c.1302_1305AAGA[2] (p.Lys437fs) rs80359277
NM_000059.3(BRCA2):c.1499del (p.Gly500fs) rs397507591
NM_000059.3(BRCA2):c.1805del (p.Gly602fs) rs397507608
NM_000059.3(BRCA2):c.201_219del (p.Arg67fs) rs1566215870
NM_000059.3(BRCA2):c.2399dup (p.Gly800_Asn801insTer) rs886040423
NM_000059.3(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533
NM_000059.3(BRCA2):c.3202_3245del (p.Val1068fs) rs1566228017
NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs) rs80359380
NM_000059.3(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.3(BRCA2):c.4449del (p.Asp1484fs) rs80359448
NM_000059.3(BRCA2):c.4895_4938del (p.Ser1632fs) rs1566231316
NM_000059.3(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721
NM_000059.3(BRCA2):c.5338del (p.Glu1780fs) rs1566232230
NM_000059.3(BRCA2):c.5351dupA (p.Asn1784Lysfs) rs80359507
NM_000059.3(BRCA2):c.5496dup (p.Asn1833Ter) rs786203853
NM_000059.3(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785
NM_000059.3(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.6216del (p.Leu2073fs) rs80359567
NM_000059.3(BRCA2):c.6267_6269delinsC (p.Glu2089fs) rs276174868
NM_000059.3(BRCA2):c.6385G>T (p.Glu2129Ter) rs886040653
NM_000059.3(BRCA2):c.6462_6463TC[3] (p.Gln2157fs) rs80359596
NM_000059.3(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.3(BRCA2):c.723_724delinsCT (p.Lys241_Lys242delinsAsnTer) rs1566221377
NM_000059.3(BRCA2):c.7877G>A (p.Trp2626Ter) rs587781506
NM_000059.3(BRCA2):c.7965del (p.Gln2655fs) rs1566244975
NM_000059.3(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.3(BRCA2):c.9097dupA (p.Thr3033Asnfs) rs397507419
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000059.3(BRCA2):c.9666del (p.Cys3222fs) rs80359772

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