ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by Mendelics

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Gene type:
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Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs) rs80359505 0.00004
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000059.4(BRCA2):c.2T>G (p.Met1Arg) rs80358547 0.00001
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs) rs80359380 0.00001
NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter) rs80358946 0.00001
NM_000059.4(BRCA2):c.793+1G>A rs81002846 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.1278del (p.Asp427fs) rs80359274
NM_000059.4(BRCA2):c.1303_1307del (p.Arg435fs) rs1593892461
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.1964del (p.Pro655fs) rs1555282375
NM_000059.4(BRCA2):c.2376C>G (p.Tyr792Ter) rs80358503
NM_000059.4(BRCA2):c.2512A>T (p.Lys838Ter) rs747578057
NM_000059.4(BRCA2):c.2621_2622insG (p.Val875fs) rs1555282757
NM_000059.4(BRCA2):c.289G>T (p.Glu97Ter) rs397507646
NM_000059.4(BRCA2):c.2958del (p.Asn986fs) rs1593898209
NM_000059.4(BRCA2):c.3074del (p.Lys1025fs) rs2137492902
NM_000059.4(BRCA2):c.3641_3642insA (p.Phe1216fs) rs2137498577
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs) rs80359403
NM_000059.4(BRCA2):c.3998_4002del (p.Asn1333fs) rs2137501910
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter) rs80359429
NM_000059.4(BRCA2):c.4380_4381del (p.Ser1461fs) rs397507715
NM_000059.4(BRCA2):c.466_467del (p.Arg155_Asp156insTer) rs886040542
NM_000059.4(BRCA2):c.475+1G>A rs81002797
NM_000059.4(BRCA2):c.4963del (p.Tyr1655fs) rs886040557
NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter) rs80358721
NM_000059.4(BRCA2):c.5149del (p.Glu1717fs) rs886040569
NM_000059.4(BRCA2):c.5158dup (p.Ser1720fs) rs80359489
NM_000059.4(BRCA2):c.517-1G>A rs81002849
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs) rs80359493
NM_000059.4(BRCA2):c.5216dup (p.Tyr1739Ter) rs886040578
NM_000059.4(BRCA2):c.5279del (p.Asp1759_Ser1760insTer) rs2137515902
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs) rs80359525
NM_000059.4(BRCA2):c.5720_5723del (p.Asn1906_Ser1907insTer) rs80359530
NM_000059.4(BRCA2):c.5904_5907del (p.Val1969fs) rs80359547
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs) rs80359554
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter) rs80358840
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile) rs80358871
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6450dup (p.Val2151fs) rs80359594
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs) rs80359596
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter) rs80358893
NM_000059.4(BRCA2):c.6717del (p.Glu2239fs) rs1593909597
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His) rs28897743
NM_000059.4(BRCA2):c.7060C>T (p.Gln2354Ter) rs80358936
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.7191dup (p.Thr2398fs) rs886040690
NM_000059.4(BRCA2):c.738del (p.Phe246fs) rs1566221413
NM_000059.4(BRCA2):c.7580_7583dup (p.Gly2529fs) rs1555286296
NM_000059.4(BRCA2):c.7617+1G>A rs397507922
NM_000059.4(BRCA2):c.7738C>T (p.Gln2580Ter) rs80358999
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly) rs80359026
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.4(BRCA2):c.8174G>A (p.Trp2725Ter) rs730881581
NM_000059.4(BRCA2):c.8201del (p.Pro2734fs) rs886040750
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8585dup (p.Glu2863fs) rs80359720
NM_000059.4(BRCA2):c.8725A>T (p.Lys2909Ter) rs2072875960
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter) rs80359140
NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter) rs80359144
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter) rs80359156
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9209dup (p.Ser3070_Glu3071insTer) rs1593938133
NM_000059.4(BRCA2):c.931del (p.Cys311fs) rs2137466012
NM_000059.4(BRCA2):c.93G>A (p.Trp31Ter) rs80359214

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