ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by Laboratory of Molecular Diagnosis of Cancer, West China Hospital, Sichuan University

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.8633_8755del
NM_000059.4(BRCA2):c.1190_1197del (p.Gln397fs) rs886037797
NM_000059.4(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.4(BRCA2):c.161del (p.Asn54fs) rs878853297
NM_000059.4(BRCA2):c.2059_2063del (p.Leu686_Asp687insTer) rs587782780
NM_000059.4(BRCA2):c.2175dup (p.Val726fs) rs276174819
NM_000059.4(BRCA2):c.274C>T (p.Gln92Ter) rs80358529
NM_000059.4(BRCA2):c.3001del (p.Ser1001fs) rs886037801
NM_000059.4(BRCA2):c.3834_3835del (p.His1278fs) rs886037803
NM_000059.4(BRCA2):c.4041_4042del (p.Cys1348fs) rs886037800
NM_000059.4(BRCA2):c.4148_4149del (p.Asp1383fs) rs886037799
NM_000059.4(BRCA2):c.4151del (p.Leu1384fs) rs397507710
NM_000059.4(BRCA2):c.5206C>T (p.Gln1736Ter) rs886037802
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6532dup (p.His2178fs) rs886037798
NM_000059.4(BRCA2):c.6553del (p.Ala2185fs) rs80359603
NM_000059.4(BRCA2):c.67+1G>C rs81002796
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.8322dup (p.Met2775fs) rs80359706
NM_000059.4(BRCA2):c.9011del (p.Lys3004fs) rs886037804
NM_000059.4(BRCA2):c.9318G>A (p.Trp3106Ter) rs771203198
NM_000059.4(BRCA2):c.9401del (p.Gly3134fs) rs80359759
NM_000059.4(BRCA2):c.9753del (p.Lys3251fs) rs886037805

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