ClinVar Miner

List of variants reported as pathogenic for Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Familial prostate cancer by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.2059_2063del (p.Leu686_Asp687insTer) rs587782780
NM_000059.4(BRCA2):c.2259del (p.Gln754fs) rs397507621
NM_000059.4(BRCA2):c.2918C>A (p.Ser973Ter) rs397507296
NM_000059.4(BRCA2):c.2957dup (p.Asn986fs) rs80359365
NM_000059.4(BRCA2):c.3160_3163del (p.Asp1054fs) rs80359371
NM_000059.4(BRCA2):c.3189_3192del (p.Ser1064fs) rs80359374
NM_000059.4(BRCA2):c.3265C>T (p.Gln1089Ter) rs80358573
NM_000059.4(BRCA2):c.3631G>T (p.Glu1211Ter) rs886040486
NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs) rs80359412
NM_000059.4(BRCA2):c.4263del (p.Phe1421fs)
NM_000059.4(BRCA2):c.5130_5133del (p.Asp1709_Tyr1710insTer) rs80359484
NM_000059.4(BRCA2):c.5722_5723del (p.Leu1908fs) rs80359530
NM_000059.4(BRCA2):c.5789del (p.Leu1930fs) rs397507806
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter) rs80358809
NM_000059.4(BRCA2):c.5959C>T (p.Gln1987Ter) rs80358828
NM_000059.4(BRCA2):c.6466_6469del (p.Ser2156fs) rs80359596
NM_000059.4(BRCA2):c.6623del (p.Asn2208fs) rs886038150
NM_000059.4(BRCA2):c.6706del (p.Glu2236fs)
NM_000059.4(BRCA2):c.7409dup (p.Thr2471fs) rs397507915
NM_000059.4(BRCA2):c.8331+1G>A rs81002837
NM_000059.4(BRCA2):c.8961_8964del (p.Ser2988fs) rs80359734
NM_000059.4(BRCA2):c.9100C>T (p.Gln3034Ter) rs80359163

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