ClinVar Miner

List of variants in gene BRCA2 reported by Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden

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Gene type:
ClinVar version:
Total variants: 118
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HGVS dbSNP gnomAD frequency
NM_000059.4(BRCA2):c.7435+53C>T rs11147489 0.03657
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00008
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051 0.00005
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506 0.00004
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs) rs80359505 0.00004
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His) rs56070345 0.00004
NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys) rs45457795 0.00004
NM_000059.4(BRCA2):c.4301A>T (p.Lys1434Ile) rs397507714 0.00003
NM_000059.4(BRCA2):c.3962A>G (p.Asp1321Gly) rs80358645 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.1888A>G (p.Thr630Ala) rs1335307553 0.00001
NM_000059.4(BRCA2):c.3211C>T (p.His1071Tyr) rs80358564 0.00001
NM_000059.4(BRCA2):c.4319A>G (p.Lys1440Arg) rs80358669 0.00001
NM_000059.4(BRCA2):c.4703A>G (p.Lys1568Arg) rs80358699 0.00001
NM_000059.4(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815 0.00001
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn) rs80358820 0.00001
NM_000059.4(BRCA2):c.599C>T (p.Thr200Ile) rs587781402 0.00001
NM_000059.4(BRCA2):c.6289A>G (p.Thr2097Ala) rs587781965 0.00001
NM_000059.4(BRCA2):c.6467C>T (p.Ser2156Phe) rs765575482 0.00001
NM_000059.4(BRCA2):c.7669G>A (p.Ala2557Thr) rs876658624 0.00001
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly) rs80359018 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala) rs80359189 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.3(BRCA2):c.9257delG rs1555289496
NM_000059.4(BRCA2):c.1009A>G (p.Asn337Asp) rs2137466790
NM_000059.4(BRCA2):c.1033A>G (p.Lys345Glu) rs80358406
NM_000059.4(BRCA2):c.1203del (p.Gly402fs) rs2137468730
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.1535C>G (p.Pro512Arg) rs1184226464
NM_000059.4(BRCA2):c.1744A>G (p.Thr582Ala) rs80358457
NM_000059.4(BRCA2):c.1805del (p.Gly602fs) rs397507608
NM_000059.4(BRCA2):c.1909+22del rs276174816
NM_000059.4(BRCA2):c.2588dup (p.Asn863fs) rs80359335
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.3002C>T (p.Ser1001Leu) rs1555283001
NM_000059.4(BRCA2):c.3199del (p.Thr1067fs) rs80359377
NM_000059.4(BRCA2):c.3358G>T (p.Glu1120Ter) rs587778124
NM_000059.4(BRCA2):c.3497T>C (p.Val1166Ala) rs762886975
NM_000059.4(BRCA2):c.3641dup (p.Phe1216fs) rs397507678
NM_000059.4(BRCA2):c.3662C>A (p.Ser1221Tyr) rs397507313
NM_000059.4(BRCA2):c.3708dup (p.Ala1237fs) rs34575057
NM_000059.4(BRCA2):c.3739del (p.Ile1247fs) rs886040494
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs) rs80359405
NM_000059.4(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.4(BRCA2):c.397C>A (p.Pro133Thr) rs571823764
NM_000059.4(BRCA2):c.3G>A (p.Met1Ile) rs80358650
NM_000059.4(BRCA2):c.4068G>T (p.Leu1356Phe) rs28897724
NM_000059.4(BRCA2):c.4184dup (p.Gln1396fs) rs2137503755
NM_000059.4(BRCA2):c.4458del (p.Lys1487fs) rs886040532
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.4(BRCA2):c.470dup (p.Ser158fs) rs886040544
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.4(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.4(BRCA2):c.520C>T (p.Arg174Cys) rs41293469
NM_000059.4(BRCA2):c.5238dup (p.Asn1747Ter) rs80359499
NM_000059.4(BRCA2):c.5285A>C (p.Tyr1762Ser) rs80358753
NM_000059.4(BRCA2):c.5449T>C (p.Ser1817Pro) rs876658566
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr) rs587782007
NM_000059.4(BRCA2):c.6070C>T (p.Gln2024Ter) rs80358844
NM_000059.4(BRCA2):c.6215C>T (p.Ser2072Phe) rs80358862
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.68-8_68-7insG rs2138703461
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter) rs80358920
NM_000059.4(BRCA2):c.7177dup (p.Met2393fs) rs397507899
NM_000059.4(BRCA2):c.7261C>T (p.Gln2421Ter) rs397507908
NM_000059.4(BRCA2):c.7436-17T>G rs81002829
NM_000059.4(BRCA2):c.7618-2A>G rs886040940
NM_000059.4(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.4(BRCA2):c.7731del (p.Gly2578fs) rs2072710066
NM_000059.4(BRCA2):c.7753G>A (p.Gly2585Arg) rs80359002
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.8115C>G (p.Ser2705Arg) rs587781889
NM_000059.4(BRCA2):c.8172_8175dup (p.Tyr2726fs) rs397507964
NM_000059.4(BRCA2):c.8181_8189del (p.Val2728_Ala2730del) rs786203465
NM_000059.4(BRCA2):c.8411C>T (p.Pro2804Leu) rs876658705
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8535_8538del (p.Glu2846fs) rs80359714
NM_000059.4(BRCA2):c.8537_8538del (p.Glu2846fs) rs80359714
NM_000059.4(BRCA2):c.8633-4T>A rs397507407
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp) rs766173
NM_000059.4(BRCA2):c.8775G>C (p.Gln2925His) rs80359136
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys) rs139052578
NM_000059.4(BRCA2):c.9025dup (p.Tyr3009fs) rs786203575
NM_000059.4(BRCA2):c.9027del (p.His3010fs) rs80359742
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs) rs397507419
NM_000059.4(BRCA2):c.9257-1G>C rs81002889
NM_000059.4(BRCA2):c.9458G>T (p.Gly3153Val) rs80359220
NM_000059.4(BRCA2):c.9502-9T>C rs372042471
NM_000059.4(BRCA2):c.9649-6dup rs276174929
NM_000059.4(BRCA2):c.9880G>A (p.Ala3294Thr) rs2137664647
NM_000059.4(BRCA2):c.994del (p.Ile332fs) rs80359777

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