ClinVar Miner

List of variants in gene BRCA2 reported as pathogenic by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Gene type:
ClinVar version:
Total variants: 100
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter) rs80359212 0.00004
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs) rs11571658 0.00003
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter) rs80358533 0.00001
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.7480C>T (p.Arg2494Ter) rs80358972 0.00001
NM_000059.4(BRCA2):c.7558C>T (p.Arg2520Ter) rs80358981 0.00001
NM_000059.4(BRCA2):c.8167G>C (p.Asp2723His) rs41293511 0.00001
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=) rs28897756 0.00001
NM_000059.4(BRCA2):c.9118-2A>G rs81002862 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs) rs80359760
NM_000059.4(BRCA2):c.100G>T (p.Glu34Ter) rs80358391
NM_000059.4(BRCA2):c.1147del (p.Ile383fs) rs80359265
NM_000059.4(BRCA2):c.115del (p.Ala39fs) rs397507573
NM_000059.4(BRCA2):c.1202C>G (p.Ser401Ter) rs80358413
NM_000059.4(BRCA2):c.1296_1297del (p.Asn433fs) rs80359276
NM_000059.4(BRCA2):c.1310_1313del (p.Lys437fs) rs80359277
NM_000059.4(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.4(BRCA2):c.171C>G (p.Tyr57Ter) rs201523522
NM_000059.4(BRCA2):c.1899_1900insTT (p.Ala634fs) rs397507613
NM_000059.4(BRCA2):c.262_263del (p.Leu88fs) rs276174825
NM_000059.4(BRCA2):c.3283C>T (p.Gln1095Ter) rs397507662
NM_000059.4(BRCA2):c.3453del (p.Ile1151_Leu1152insTer) rs397507670
NM_000059.4(BRCA2):c.3487del (p.Asp1163fs) rs397507672
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.3593del (p.Asn1198fs) rs397507677
NM_000059.4(BRCA2):c.3772del (p.Pro1257_Ile1258insTer) rs397507684
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3865_3868del (p.Lys1289fs) rs80359412
NM_000059.4(BRCA2):c.4154C>A (p.Ser1385Ter) rs886038101
NM_000059.4(BRCA2):c.4211del (p.Thr1403_Ser1404insTer) rs398122777
NM_000059.4(BRCA2):c.4449del (p.Asp1484fs) rs80359448
NM_000059.4(BRCA2):c.4478_4481del (p.Glu1493fs) rs80359454
NM_000059.4(BRCA2):c.4556del (p.Pro1519fs) rs397507728
NM_000059.4(BRCA2):c.4615_4616del (p.Leu1539fs) rs869320783
NM_000059.4(BRCA2):c.462_463del (p.Arg155_Asp156insTer) rs80359459
NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter) rs80358721
NM_000059.4(BRCA2):c.5071A>T (p.Lys1691Ter) rs886038116
NM_000059.4(BRCA2):c.5073del (p.Lys1691fs) rs80359479
NM_000059.4(BRCA2):c.516+1G>T rs397507762
NM_000059.4(BRCA2):c.516+2T>G rs397507764
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs) rs80359493
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5281G>T (p.Gly1761Ter) rs886038122
NM_000059.4(BRCA2):c.5286T>A (p.Tyr1762Ter) rs80358754
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5351dup (p.Asn1784fs) rs80359507
NM_000059.4(BRCA2):c.5682C>G (p.Tyr1894Ter) rs41293497
NM_000059.4(BRCA2):c.5796_5797del (p.His1932fs) rs80359537
NM_000059.4(BRCA2):c.5969del (p.Asp1990fs) rs886038135
NM_000059.4(BRCA2):c.6164del (p.Phe2055fs) rs397507831
NM_000059.4(BRCA2):c.6270_6271del (p.His2090fs) rs80359571
NM_000059.4(BRCA2):c.635_636del (p.Arg212fs) rs80359575
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs) rs80359584
NM_000059.4(BRCA2):c.6428C>A (p.Ser2143Ter) rs149330893
NM_000059.4(BRCA2):c.6547G>T (p.Glu2183Ter) rs397507866
NM_000059.4(BRCA2):c.6557C>A (p.Ser2186Ter) rs397507867
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000059.4(BRCA2):c.6634_6637del (p.Cys2212fs) rs397507871
NM_000059.4(BRCA2):c.674del (p.Thr225fs) rs886038054
NM_000059.4(BRCA2):c.6816_6817del (p.Gly2274fs) rs397507886
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.7069_7070del (p.Leu2357fs) rs80359636
NM_000059.4(BRCA2):c.7261C>T (p.Gln2421Ter) rs397507908
NM_000059.4(BRCA2):c.7419_7420del (p.Cys2473_Glu2474delinsTer) rs80359651
NM_000059.4(BRCA2):c.7567_7568del (p.Leu2523fs) rs80359664
NM_000059.4(BRCA2):c.7617+1G>T rs397507922
NM_000059.4(BRCA2):c.7617+2T>G rs81002843
NM_000059.4(BRCA2):c.7618-2A>G rs886040940
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.4(BRCA2):c.7806-1G>T rs81002860
NM_000059.4(BRCA2):c.7856G>A (p.Trp2619Ter) rs397507941
NM_000059.4(BRCA2):c.7886G>A (p.Trp2629Ter) rs80359015
NM_000059.4(BRCA2):c.7974C>G (p.Tyr2658Ter) rs80359025
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.7977-2del rs397507947
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter) rs80359046
NM_000059.4(BRCA2):c.8178T>A (p.Tyr2726Ter) rs761595544
NM_000059.4(BRCA2):c.8332-2A>G rs587782774
NM_000059.4(BRCA2):c.8364G>A (p.Trp2788Ter) rs397507981
NM_000059.4(BRCA2):c.8632+1G>T rs397507997
NM_000059.4(BRCA2):c.8754+1G>T rs397508006
NM_000059.4(BRCA2):c.8754+3G>C rs397508007
NM_000059.4(BRCA2):c.8754+5G>A rs81002813
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8773C>T (p.Gln2925Ter) rs80359134
NM_000059.4(BRCA2):c.8911A>T (p.Lys2971Ter) rs886038187
NM_000059.4(BRCA2):c.9076C>T (p.Gln3026Ter) rs80359159
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9227del (p.Gly3076fs) rs397508040
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000059.4(BRCA2):c.926C>A (p.Ser309Ter) rs886038059
NM_000059.4(BRCA2):c.952A>T (p.Lys318Ter) rs397508060
NM_000059.4(BRCA2):c.9649-1G>T rs1555289898

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