ClinVar Miner

List of variants in gene BRCA2 reported as uncertain significance by Department of Pathology and Molecular Medicine, Queen's University

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_000059.4(BRCA2):c.3073A>G (p.Lys1025Glu) rs80358550 0.00006
NM_000059.4(BRCA2):c.2389A>G (p.Lys797Glu) rs587782737 0.00002
NM_000059.4(BRCA2):c.2287C>G (p.His763Asp) rs863224585 0.00001
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn) rs80358967 0.00001
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104 0.00001
NM_000059.4(BRCA2):c.1834G>A (p.Glu612Lys) rs1135401938
NM_000059.4(BRCA2):c.1909+22del rs276174816
NM_000059.4(BRCA2):c.3861TAA[1] (p.Asn1288del) rs276174837
NM_000059.4(BRCA2):c.4648G>C (p.Glu1550Gln) rs80358695
NM_000059.4(BRCA2):c.4957A>G (p.Thr1653Ala) rs587782186
NM_000059.4(BRCA2):c.68-7del rs276174878
NM_000059.4(BRCA2):c.6841+80_6841+83del rs11571661
NM_000059.4(BRCA2):c.9019A>G (p.Arg3007Gly) rs397507417
NM_000059.4(BRCA2):c.956A>G (p.Asn319Ser) rs55939572

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