ClinVar Miner

List of variants in gene BRCA2 studied for Fanconi anemia

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000059.4(BRCA2):c.6921A>G (p.Ser2307=) rs181183366 0.00019
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00013
NM_000059.4(BRCA2):c.267G>A (p.Pro89=) rs587780648 0.00004
NM_000059.4(BRCA2):c.5319G>A (p.Glu1773=) rs376257217 0.00004
NM_000059.4(BRCA2):c.*345A>G rs886050113 0.00003
NM_000059.4(BRCA2):c.4648G>T (p.Glu1550Ter) rs80358695 0.00001
NM_000059.4(BRCA2):c.5225A>T (p.Asn1742Ile) rs756463217 0.00001
NM_000059.4(BRCA2):c.631+2T>G rs81002899 0.00001
NM_000059.4(BRCA2):c.9032T>C (p.Leu3011Pro) rs80359155 0.00001
NM_000059.4(BRCA2):c.963A>G (p.Gln321=) rs276174927 0.00001
NM_000059.4(BRCA2):c.*360dup rs886050114
NM_000059.4(BRCA2):c.*416G>T rs886050116
NM_000059.4(BRCA2):c.*675C>A rs886050117
NM_000059.4(BRCA2):c.*839del rs75353978
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.486del (p.Ser163fs) rs587780653
NM_000059.4(BRCA2):c.6237G>A (p.Val2079=) rs864622516

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