ClinVar Miner

List of variants in gene BRCA2 reported as uncertain significance by Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00013
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.2550A>G (p.Gln850=) rs80359785 0.00005
NM_000059.4(BRCA2):c.9087G>A (p.Ala3029=) rs368576266 0.00005
NM_000059.4(BRCA2):c.4531G>A (p.Glu1511Lys) rs376338226 0.00004
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter) rs397507568 0.00001
NM_000059.4(BRCA2):c.4574A>C (p.His1525Pro) rs397507336 0.00001
NM_000059.4(BRCA2):c.10253_10256del (p.Ile3418fs) rs80359259
NM_000059.4(BRCA2):c.1056C>T (p.Tyr352=) rs786201858
NM_000059.4(BRCA2):c.1077A>G (p.Glu359=) rs1135401832
NM_000059.4(BRCA2):c.1909+22dup rs276174816
NM_000059.4(BRCA2):c.3786A>T (p.Ser1262=) rs1042077901
NM_000059.4(BRCA2):c.458C>T (p.Pro153Leu) rs1135401830
NM_000059.4(BRCA2):c.4685A>G (p.Gln1562Arg) rs544688816
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.4(BRCA2):c.627C>A (p.Leu209=) rs28897704
NM_000059.4(BRCA2):c.6562A>G (p.Lys2188Glu) rs1135401833
NM_000059.4(BRCA2):c.781G>C (p.Ala261Pro) rs1135401831
NM_000059.4(BRCA2):c.7953G>T (p.Arg2651Ser) rs752351454
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165

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