ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario

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Total variants: 34
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HGVS dbSNP
NM_000059.3(BRCA2):c.1054dup (p.Tyr352fs) rs80359261
NM_000059.3(BRCA2):c.10G>T (p.Gly4Ter) rs397507571
NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs) rs80359306
NM_000059.3(BRCA2):c.2330dup (p.Asp777fs) rs80359328
NM_000059.3(BRCA2):c.2409T>G (p.Tyr803Ter) rs80358504
NM_000059.3(BRCA2):c.2588dupA (p.Asn863Lysfs) rs80359335
NM_000059.3(BRCA2):c.3170_3174del (p.Lys1057fs) rs80359373
NM_000059.3(BRCA2):c.3221_3225GTAGT[1] (p.Val1076fs) rs397507659
NM_000059.3(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.3(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.3(BRCA2):c.4631dupA (p.Asn1544Lysfs) rs80359460
NM_000059.3(BRCA2):c.4638del (p.Phe1546fs) rs80359462
NM_000059.3(BRCA2):c.4876_4877del (p.Asn1626fs) rs80359470
NM_000059.3(BRCA2):c.5073dupA (p.Trp1692Metfs) rs80359479
NM_000059.3(BRCA2):c.5238dupT (p.Asn1747Terfs) rs80359499
NM_000059.3(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785
NM_000059.3(BRCA2):c.5718_5719CT[2] (p.Leu1908fs) rs80359530
NM_000059.3(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.6079dupA (p.Arg2027Lysfs) rs397507826
NM_000059.3(BRCA2):c.631+2T>G rs81002899
NM_000059.3(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.3(BRCA2):c.6643del (p.Tyr2215fs) rs80359614
NM_000059.3(BRCA2):c.6644_6647del (p.Tyr2215fs) rs80359616
NM_000059.3(BRCA2):c.751_754ACAG[1] (p.Asp252fs) rs80359659
NM_000059.3(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.3(BRCA2):c.8533_8534AG[2] (p.Glu2846fs) rs80359714
NM_000059.3(BRCA2):c.8904del (p.Val2969fs) rs80359730
NM_000059.3(BRCA2):c.891_899delinsGATACTTCAG (p.Thr298fs) rs276174914
NM_000059.3(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212
NM_000059.3(BRCA2):c.9924C>G (p.Tyr3308Ter) rs4987049

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