ClinVar Miner

List of variants in gene BRCA2 reported by Neuberg Centre For Genomic Medicine, NCGM

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Gene type:
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys) rs373203204 0.00004
NM_000059.4(BRCA2):c.6929C>A (p.Thr2310Asn) rs276174886 0.00003
NM_000059.4(BRCA2):c.3323A>C (p.Lys1108Thr) rs765232270 0.00002
NM_000059.4(BRCA2):c.1002T>G (p.His334Gln) rs544942885 0.00001
NM_000059.4(BRCA2):c.1714G>A (p.Val572Ile) rs587782713 0.00001
NM_000059.4(BRCA2):c.4534C>T (p.Arg1512Cys) rs80358684 0.00001
NM_000059.4(BRCA2):c.7971A>C (p.Lys2657Asn) rs863224312 0.00001
NM_000059.4(BRCA2):c.9548T>C (p.Ile3183Thr) rs755201475 0.00001
NM_000059.4(BRCA2):c.10082A>C (p.Gln3361Pro) rs751250810
NM_000059.4(BRCA2):c.1555A>G (p.Ser519Gly) rs1555281950
NM_000059.4(BRCA2):c.1662T>A (p.Cys554Ter)
NM_000059.4(BRCA2):c.2050C>T (p.Gln684Ter) rs2072449598
NM_000059.4(BRCA2):c.2548C>T (p.Gln850Ter) rs886038075
NM_000059.4(BRCA2):c.2623G>A (p.Val875Ile) rs587782582
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.3187C>T (p.Gln1063Ter) rs876657678
NM_000059.4(BRCA2):c.347_350del (p.Ser116fs)
NM_000059.4(BRCA2):c.3523C>T (p.Gln1175Ter) rs886040480
NM_000059.4(BRCA2):c.3569G>A (p.Arg1190Gln) rs80358605
NM_000059.4(BRCA2):c.3636_3639del (p.Asn1212fs) rs876659656
NM_000059.4(BRCA2):c.3720_3721del (p.Leu1240_Phe1241insTer) rs1555283373
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.4140T>G (p.Ile1380Met) rs587781488
NM_000059.4(BRCA2):c.4165T>G (p.Phe1389Val) rs1409088355
NM_000059.4(BRCA2):c.426-2A>G rs398122779
NM_000059.4(BRCA2):c.4470A>G (p.Ile1490Met) rs1593902461
NM_000059.4(BRCA2):c.4544dup (p.Ile1516fs) rs397507725
NM_000059.4(BRCA2):c.486del (p.Ser163fs) rs587780653
NM_000059.4(BRCA2):c.5146_5149del (p.Tyr1716fs) rs276174854
NM_000059.4(BRCA2):c.5222_5225del (p.Ser1741fs) rs80359498
NM_000059.4(BRCA2):c.5411T>C (p.Val1804Ala) rs370252983
NM_000059.4(BRCA2):c.5583dup (p.Val1862fs) rs397507790
NM_000059.4(BRCA2):c.6082_6086del (p.Glu2028fs) rs80359558
NM_000059.4(BRCA2):c.6222_6223del (p.His2074fs) rs2548532824
NM_000059.4(BRCA2):c.631+1G>C rs81002897
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.7251_7252del (p.His2417fs) rs397507907
NM_000059.4(BRCA2):c.7885T>C (p.Trp2629Arg) rs2548545454
NM_000059.4(BRCA2):c.8677C>T (p.Gln2893Ter) rs397507409
NM_000059.4(BRCA2):c.8720C>T (p.Ala2907Val) rs2137613231
NM_000059.4(BRCA2):c.905C>G (p.Thr302Ser) rs80359158
NM_000059.4(BRCA2):c.9294C>A (p.Tyr3098Ter) rs80359200
NM_000059.4(BRCA2):c.9458del (p.Gly3153fs) rs397508052
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775

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