ClinVar Miner

List of variants in gene BRCA2 reported by St. Jude Molecular Pathology, St. Jude Children's Research Hospital

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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000059.4(BRCA2):c.6560C>T (p.Pro2187Leu) rs56019712 0.00015
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr) rs55854959 0.00014
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg) rs431825302 0.00007
NM_000059.4(BRCA2):c.5498A>G (p.Asn1833Ser) rs587782601 0.00006
NM_000059.4(BRCA2):c.6215C>G (p.Ser2072Cys) rs80358862 0.00006
NM_000059.4(BRCA2):c.6541G>C (p.Gly2181Arg) rs371067421 0.00006
NM_000059.4(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930 0.00006
NM_000059.4(BRCA2):c.9353T>C (p.Met3118Thr) rs56204128 0.00005
NM_000059.4(BRCA2):c.4965C>G (p.Tyr1655Ter) rs80358721 0.00004
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His) rs80359143 0.00004
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636 0.00002
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822 0.00002
NM_000059.4(BRCA2):c.8687G>A (p.Arg2896His) rs80359128 0.00002
NM_000059.4(BRCA2):c.8972G>A (p.Arg2991His) rs80359150 0.00002
NM_000059.4(BRCA2):c.1462A>G (p.Ile488Val) rs864622352 0.00001
NM_000059.4(BRCA2):c.232C>T (p.Pro78Ser) rs398122745 0.00001
NM_000059.4(BRCA2):c.4315G>A (p.Ala1439Thr) rs80358666 0.00001
NM_000059.4(BRCA2):c.4695G>T (p.Lys1565Asn) rs587782522 0.00001
NM_000059.4(BRCA2):c.4850G>A (p.Ser1617Asn) rs397507341 0.00001
NM_000059.4(BRCA2):c.5200G>A (p.Glu1734Lys) rs786202543 0.00001
NM_000059.4(BRCA2):c.562G>A (p.Val188Met) rs1555281063 0.00001
NM_000059.4(BRCA2):c.7706G>A (p.Gly2569Asp) rs587781943 0.00001
NM_000059.4(BRCA2):c.8293T>G (p.Cys2765Gly) rs768247528 0.00001
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127 0.00001
NM_000059.4(BRCA2):c.8708A>G (p.Glu2903Gly) rs730881566 0.00001
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala) rs80359189 0.00001
NM_000059.4(BRCA2):c.9433G>C (p.Val3145Leu) rs587776476 0.00001
NM_000059.3(BRCA2):c.9503_9506delinsTAAG (p.Asn3168_Ile3169delinsIleSer) rs1566260060
NM_000059.4(BRCA2):c.1755_1759del (p.Lys585fs) rs80359302
NM_000059.4(BRCA2):c.1909+9_1909+10del rs527732001
NM_000059.4(BRCA2):c.3071_3073del (p.Ile1024del) rs754836679
NM_000059.4(BRCA2):c.3900G>A (p.Met1300Ile) rs876659209
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.4637T>C (p.Phe1546Ser) rs397507337
NM_000059.4(BRCA2):c.5023T>C (p.Cys1675Arg) rs786201420
NM_000059.4(BRCA2):c.518del (p.Gly173Valfs) rs80359492
NM_000059.4(BRCA2):c.5201_5205delinsGAAAAG (p.Glu1734fs) rs483353082
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5554G>A (p.Val1852Ile) rs80358777
NM_000059.4(BRCA2):c.5575A>G (p.Ile1859Val) rs397507354
NM_000059.4(BRCA2):c.5747A>G (p.His1916Arg) rs431825334
NM_000059.4(BRCA2):c.6611C>A (p.Pro2204His) rs1555284771
NM_000059.4(BRCA2):c.6741T>A (p.Ser2247Arg) rs80358898
NM_000059.4(BRCA2):c.7354A>G (p.Asn2452Asp) rs398122580
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del) rs876659222
NM_000059.4(BRCA2):c.7977-4_7977-3del rs876659992
NM_000059.4(BRCA2):c.8048C>T (p.Ala2683Val)
NM_000059.4(BRCA2):c.82A>G (p.Ser28Gly) rs864622464
NM_000059.4(BRCA2):c.8611G>C (p.Glu2871Gln) rs587782860
NM_000059.4(BRCA2):c.9377A>G (p.Gln3126Arg) rs397507426
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs) rs80359775

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