ClinVar Miner

List of variants in gene BRCA2 reported by Centre for Mendelian Genomics,University Medical Centre Ljubljana

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Total variants: 19
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HGVS dbSNP
NM_000059.3(BRCA2):c.2063A>G (p.Tyr688Cys) rs28897713
NM_000059.3(BRCA2):c.3723T>G (p.Phe1241Leu) rs587782723
NM_000059.3(BRCA2):c.3861_3863TAA[1] (p.Asn1288del) rs276174837
NM_000059.3(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.3(BRCA2):c.5291C>G (p.Ser1764Ter) rs397507778
NM_000059.3(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768
NM_000059.3(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) rs276174859
NM_000059.3(BRCA2):c.5723_5724del (p.Leu1908fs) rs886040608
NM_000059.3(BRCA2):c.8415_8417ATC[1] (p.Ser2807del) rs1060502398
NM_000059.3(BRCA2):c.8507C>T (p.Ser2836Phe) rs863224599
NM_000059.3(BRCA2):c.9874C>T (p.Pro3292Ser) rs876660917
NM_000059.3(BRCA2):c.9971C>A (p.Pro3324Gln) rs1593202112
NM_000059.4(BRCA2):c.10095_10096insT (p.Ser3366Ter) rs730881599
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7175A>C (p.Lys2392Thr)
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8792del (p.Asn2931fs)
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754

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