ClinVar Miner

List of variants reported as pathogenic for Breast-ovarian cancer, familial 2 by Genome Diagnostics Laboratory,University Medical Center Utrecht

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Total variants: 24
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HGVS dbSNP
NM_000059.3(BRCA2):c.1202C>G (p.Ser401Ter) rs80358413
NM_000059.3(BRCA2):c.1899_1900insTT (p.Ala634fs) rs397507613
NM_000059.3(BRCA2):c.3599_3600del (p.Asp1199_Cys1200insTer) rs80359391
NM_000059.3(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.3(BRCA2):c.4154C>A (p.Ser1385Ter) rs886038101
NM_000059.3(BRCA2):c.4965C>A (p.Tyr1655Ter) rs80358721
NM_000059.3(BRCA2):c.516+1G>T rs397507762
NM_000059.3(BRCA2):c.5281G>T (p.Gly1761Ter) rs886038122
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.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.3(BRCA2):c.7617+1G>T rs397507922
NM_000059.3(BRCA2):c.7886G>A (p.Trp2629Ter) rs80359015
NM_000059.3(BRCA2):c.7974C>G (p.Tyr2658Ter) rs80359025
NM_000059.3(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.3(BRCA2):c.8754+3G>C rs397508007
NM_000059.3(BRCA2):c.8754+5G>A rs81002813
NM_000059.3(BRCA2):c.8911A>T (p.Lys2971Ter) rs886038187
NM_000059.3(BRCA2):c.9076C>T (p.Gln3026Ter) rs80359159
NM_000059.3(BRCA2):c.9117G>A (p.Pro3039=) rs28897756
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212
NM_000059.3(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773

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