ClinVar Miner

List of variants reported as pathogenic for Breast-ovarian cancer, familial 2 by Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine

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Total variants: 29
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HGVS dbSNP
NM_000059.3(BRCA2):c.1411G>T (p.Glu471Ter) rs80358428
NM_000059.3(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) rs276174813
NM_000059.3(BRCA2):c.1800T>A (p.Tyr600Ter) rs80358464
NM_000059.3(BRCA2):c.1813dupA (p.Ile605Asnfs) rs80359306
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.3170_3174del (p.Lys1057fs) rs80359373
NM_000059.3(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.3(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.3(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter) rs80359429
NM_000059.3(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.3(BRCA2):c.4472_4475del (p.Leu1491fs) rs80359452
NM_000059.3(BRCA2):c.4552del (p.Glu1518fs) rs398122783
NM_000059.3(BRCA2):c.5130T>G (p.Tyr1710Ter) rs1566231778
NM_000059.3(BRCA2):c.5217_5223del (p.Thr1738_Tyr1739insTer) rs80359496
NM_000059.3(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.3(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000059.3(BRCA2):c.6033_6034del (p.Ser2012fs) rs397507823
NM_000059.3(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.3(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658
NM_000059.3(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981
NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.3(BRCA2):c.8633-1G>A rs398122711
NM_000059.3(BRCA2):c.9117G>A (p.Pro3039=) rs28897756
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000059.3(BRCA2):c.9257-1G>C rs81002889
NM_000059.3(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200
NM_000059.3(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212
NM_000059.3(BRCA2):c.9401del (p.Gly3134fs) rs80359759
NM_000059.3(BRCA2):c.9924C>G (p.Tyr3308Ter) rs4987049

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