ClinVar Miner

List of variants studied for Breast-ovarian cancer, familial 2 by Quest Diagnostics Nichols Institute San Juan Capistrano

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ClinVar version:
Total variants: 172
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HGVS dbSNP
NM_000059.3(BRCA2):c.-41G>A rs879255312
NM_000059.3(BRCA2):c.1002T>G (p.His334Gln) rs544942885
NM_000059.3(BRCA2):c.1029del (p.Lys343fs) rs80359260
NM_000059.3(BRCA2):c.1103C>A (p.Ser368Ter) rs80358407
NM_000059.3(BRCA2):c.1189_1190insTTAG (p.Gln397fs) rs397515635
NM_000059.3(BRCA2):c.1205del (p.Gly402fs) rs397507265
NM_000059.3(BRCA2):c.1294_1295GA[1] (p.Asn433fs) rs80359276
NM_000059.3(BRCA2):c.1327G>T (p.Glu443Ter) rs397507579
NM_000059.3(BRCA2):c.1362del (p.Lys454fs) rs80359282
NM_000059.3(BRCA2):c.1387A>G (p.Thr463Ala) rs879255302
NM_000059.3(BRCA2):c.1389_1390del (p.Val464fs) rs80359283
NM_000059.3(BRCA2):c.1399A>T (p.Lys467Ter) rs80358427
NM_000059.3(BRCA2):c.1427C>G (p.Ser476Cys) rs80358431
NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.3(BRCA2):c.1574C>G (p.Thr525Ser) rs397507271
NM_000059.3(BRCA2):c.1631_1632del (p.Thr544fs) rs80359295
NM_000059.3(BRCA2):c.1754del (p.Lys585fs) rs80359301
NM_000059.3(BRCA2):c.1769_1772TTAT[1] (p.Ile591fs) rs80359304
NM_000059.3(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) rs276174813
NM_000059.3(BRCA2):c.1831del (p.Ser611fs) rs80359311
NM_000059.3(BRCA2):c.18_19AG[2] (p.Arg8fs) rs397507623
NM_000059.3(BRCA2):c.1909+1G>A rs587781629
NM_000059.3(BRCA2):c.1993A>G (p.Thr665Ala) rs144192844
NM_000059.3(BRCA2):c.2026T>C (p.Cys676Arg) rs397507280
NM_000059.3(BRCA2):c.217C>T (p.Gln73Ter) rs398122741
NM_000059.3(BRCA2):c.2224C>T (p.Gln742Ter) rs80358494
NM_000059.3(BRCA2):c.2332G>A (p.Val778Ile) rs587779360
NM_000059.3(BRCA2):c.2368G>T (p.Glu790Ter) rs398122746
NM_000059.3(BRCA2):c.2376C>A (p.Tyr792Ter) rs80358503
NM_000059.3(BRCA2):c.2426T>G (p.Leu809Ter) rs397507285
NM_000059.3(BRCA2):c.2562_2563CA[1] (p.Thr855fs) rs80359334
NM_000059.3(BRCA2):c.26del (p.Pro9fs) rs80359343
NM_000059.3(BRCA2):c.2813C>A (p.Ala938Glu) rs55773834
NM_000059.3(BRCA2):c.2848G>A (p.Val950Ile) rs775903570
NM_000059.3(BRCA2):c.2892A>T (p.Lys964Asn) rs587778119
NM_000059.3(BRCA2):c.2918C>T (p.Ser973Leu) rs397507296
NM_000059.3(BRCA2):c.3071_3073del (p.Ile1024del) rs754836679
NM_000059.3(BRCA2):c.3075_3076delinsTT (p.Lys1025_Lys1026delinsAsnTer) rs587779362
NM_000059.3(BRCA2):c.3245A>G (p.Lys1082Arg) rs80358569
NM_000059.3(BRCA2):c.3336del (p.Glu1113fs) rs398122763
NM_000059.3(BRCA2):c.3422del (p.Thr1141fs) rs879255311
NM_000059.3(BRCA2):c.3680_3681del (p.Leu1227fs) rs80359395
NM_000059.3(BRCA2):c.3689del (p.Ser1230fs) rs80359398
NM_000059.3(BRCA2):c.3697G>A (p.Ala1233Thr) rs80358613
NM_000059.3(BRCA2):c.3717del (p.Lys1239fs) rs80359401
NM_000059.3(BRCA2):c.3831T>G (p.Asn1277Lys) rs879255303
NM_000059.3(BRCA2):c.3865_3868del (p.Lys1289fs) rs80359412
NM_000059.3(BRCA2):c.3966_3968del (p.Asn1322del) rs397507319
NM_000059.3(BRCA2):c.3975_3978dup (p.Ala1327fs) rs397515636
NM_000059.3(BRCA2):c.3G>A (p.Met1Ile) rs80358650
NM_000059.3(BRCA2):c.4067T>C (p.Leu1356Ser) rs876660967
NM_000059.3(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter) rs80359429
NM_000059.3(BRCA2):c.4325C>G (p.Ser1442Ter) rs80358670
NM_000059.3(BRCA2):c.4380_4381del (p.Ser1461fs) rs397507715
NM_000059.3(BRCA2):c.4398_4402del (p.Leu1466fs) rs80359444
NM_000059.3(BRCA2):c.4409_4413del (p.Ile1470fs) rs397507718
NM_000059.3(BRCA2):c.4425G>A (p.Met1475Ile) rs879255301
NM_000059.3(BRCA2):c.4449del (p.Asp1484fs) rs80359448
NM_000059.3(BRCA2):c.4527A>C (p.Gln1509His) rs56283738
NM_000059.3(BRCA2):c.4551_4554del (p.Lys1517fs) rs80359457
NM_000059.3(BRCA2):c.4587dup (p.Lys1530fs) rs745456776
NM_000059.3(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.3(BRCA2):c.4647_4650del (p.Lys1549fs) rs397507734
NM_000059.3(BRCA2):c.470_474del (p.Lys157fs) rs80359463
NM_000059.3(BRCA2):c.4741G>A (p.Glu1581Lys) rs368952892
NM_000059.3(BRCA2):c.4827_4828TG[1] (p.Val1610fs) rs80359468
NM_000059.3(BRCA2):c.4889C>G (p.Ser1630Ter) rs80358711
NM_000059.3(BRCA2):c.4933_4935del (p.Lys1645del) rs80359472
NM_000059.3(BRCA2):c.4964dup (p.Tyr1655Ter) rs398122789
NM_000059.3(BRCA2):c.4965C>A (p.Tyr1655Ter) rs80358721
NM_000059.3(BRCA2):c.5112_5115AATA[1] (p.Asn1706fs) rs276174853
NM_000059.3(BRCA2):c.5164_5165del (p.Ser1722fs) rs80359490
NM_000059.3(BRCA2):c.517-1G>A rs81002849
NM_000059.3(BRCA2):c.517-4C>G rs81002804
NM_000059.3(BRCA2):c.5171T>C (p.Ile1724Thr) rs80358743
NM_000059.3(BRCA2):c.5191C>T (p.His1731Tyr) rs80358745
NM_000059.3(BRCA2):c.5213_5216del (p.Thr1738fs) rs80359493
NM_000059.3(BRCA2):c.5328_5330GAA[1] (p.Lys1777del) rs398122529
NM_000059.3(BRCA2):c.5386_5387del (p.Asp1796fs) rs587782598
NM_000059.3(BRCA2):c.5404C>T (p.Gln1802Ter) rs80358763
NM_000059.3(BRCA2):c.5410_5411del (p.Val1804fs) rs80359512
NM_000059.3(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765
NM_000059.3(BRCA2):c.5609_5610delinsAG (p.Phe1870Ter) rs276174859
NM_000059.3(BRCA2):c.5621_5624del (p.Ile1874fs) rs80359526
NM_000059.3(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097
NM_000059.3(BRCA2):c.5655C>A (p.Cys1885Ter) rs80358789
NM_000059.3(BRCA2):c.5681dupA (p.Tyr1894Terfs) rs80359527
NM_000059.3(BRCA2):c.5715dup (p.Asn1906Ter) rs587782901
NM_000059.3(BRCA2):c.5782G>A (p.Glu1928Lys) rs56253082
NM_000059.3(BRCA2):c.5796_5797del (p.His1932fs) rs80359537
NM_000059.3(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814
NM_000059.3(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.3(BRCA2):c.5968_5969del (p.Asp1990fs) rs80359552
NM_000059.3(BRCA2):c.606C>T (p.Pro202=) rs747726394
NM_000059.3(BRCA2):c.6164del (p.Phe2055fs) rs397507831
NM_000059.3(BRCA2):c.6176G>A (p.Ser2059Asn) rs587780657
NM_000059.3(BRCA2):c.6295A>G (p.Arg2099Gly) rs398122551
NM_000059.3(BRCA2):c.6443C>A (p.Ser2148Tyr) rs80358880
NM_000059.3(BRCA2):c.6447_6448dup (p.Lys2150fs) rs397507858
NM_000059.3(BRCA2):c.6458del (p.Pro2153fs) rs786203660
NM_000059.3(BRCA2):c.6591_6592del (p.Glu2198fs) rs80359605
NM_000059.3(BRCA2):c.662_663del (p.Phe221fs) rs80359609
NM_000059.3(BRCA2):c.6641dupC (p.Tyr2215Leufs) rs80359613
NM_000059.3(BRCA2):c.6644_6647del (p.Tyr2215fs) rs80359616
NM_000059.3(BRCA2):c.6644dupA (p.Tyr2215Terfs) rs80359615
NM_000059.3(BRCA2):c.67+1G>C rs81002796
NM_000059.3(BRCA2):c.6792G>C (p.Leu2264Phe) rs756182263
NM_000059.3(BRCA2):c.6815_6816del (p.Arg2272fs) rs879255310
NM_000059.3(BRCA2):c.695A>G (p.Tyr232Cys) rs372188754
NM_000059.3(BRCA2):c.6966G>T (p.Met2322Ile) rs80358924
NM_000059.3(BRCA2):c.6980del (p.Ser2326_Leu2327insTer) rs879255306
NM_000059.3(BRCA2):c.6991A>G (p.Thr2331Ala) rs80358926
NM_000059.3(BRCA2):c.700del (p.Ser234fs) rs80359630
NM_000059.3(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.3(BRCA2):c.7093C>T (p.His2365Tyr) rs876659943
NM_000059.3(BRCA2):c.709G>A (p.Asp237Asn) rs398122575
NM_000059.3(BRCA2):c.7185C>T (p.His2395=) rs730881580
NM_000059.3(BRCA2):c.729_732del (p.Asn243fs) rs80359645
NM_000059.3(BRCA2):c.7301del (p.Lys2434fs) rs786202441
NM_000059.3(BRCA2):c.7435+5T>C rs775973095
NM_000059.3(BRCA2):c.756_757del (p.Asp252fs) rs80359662
NM_000059.3(BRCA2):c.771_775del (p.Asn257fs) rs80359671
NM_000059.3(BRCA2):c.773A>G (p.Gln258Arg) rs749729890
NM_000059.3(BRCA2):c.7762_7764delinsTT (p.Ile2588fs) rs483353072
NM_000059.3(BRCA2):c.776_777GA[1] (p.Glu260fs) rs80359677
NM_000059.3(BRCA2):c.7786G>A (p.Gly2596Arg) rs398122591
NM_000059.3(BRCA2):c.7806-2A>G rs81002836
NM_000059.3(BRCA2):c.7822C>G (p.Pro2608Ala) rs879255308
NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.3(BRCA2):c.7913_7917del (p.Ala2637_Phe2638insTer) rs80359686
NM_000059.3(BRCA2):c.7985C>A (p.Thr2662Lys) rs431825362
NM_000059.3(BRCA2):c.8009C>A (p.Ser2670Ter) rs80359035
NM_000059.3(BRCA2):c.8042C>G (p.Thr2681Arg) rs587782519
NM_000059.3(BRCA2):c.8125A>G (p.Ser2709Gly) rs398122596
NM_000059.3(BRCA2):c.818C>A (p.Ser273Ter) rs80359068
NM_000059.3(BRCA2):c.81_83delinsTAAGACT (p.Ser28fs) rs879255300
NM_000059.3(BRCA2):c.8247_8248del (p.Lys2750fs) rs80359701
NM_000059.3(BRCA2):c.8363G>A (p.Trp2788Ter) rs80359080
NM_000059.3(BRCA2):c.8501del (p.Thr2834fs) rs80359712
NM_000059.3(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114
NM_000059.3(BRCA2):c.8575C>T (p.Gln2859Ter) rs80359115
NM_000059.3(BRCA2):c.8581A>T (p.Arg2861Ter) rs398122608
NM_000059.3(BRCA2):c.8633-1G>A rs398122711
NM_000059.3(BRCA2):c.8702G>T (p.Gly2901Val) rs80359129
NM_000059.3(BRCA2):c.8739C>G (p.Asp2913Glu) rs786201996
NM_000059.3(BRCA2):c.8754+1G>A rs397508006
NM_000059.3(BRCA2):c.8754+4A>G rs81002893
NM_000059.3(BRCA2):c.8869C>T (p.Gln2957Ter) rs276174913
NM_000059.3(BRCA2):c.889G>T (p.Glu297Ter) rs879255298
NM_000059.3(BRCA2):c.8930del (p.Tyr2977fs) rs869320799
NM_000059.3(BRCA2):c.8948_8953+5delATTCAGGTAAG rs276174915
NM_000059.3(BRCA2):c.9118-5T>C rs879255299
NM_000059.3(BRCA2):c.9196C>T (p.Gln3066Ter) rs80359180
NM_000059.3(BRCA2):c.9227G>A (p.Gly3076Glu) rs80359187
NM_000059.3(BRCA2):c.9235del (p.Val3079fs) rs397507422
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000059.3(BRCA2):c.9294C>G (p.Tyr3098Ter) rs80359200
NM_000059.3(BRCA2):c.9364G>A (p.Ala3122Thr) rs587782313
NM_000059.3(BRCA2):c.9380G>A (p.Trp3127Ter) rs80359211
NM_000059.3(BRCA2):c.9403del (p.Leu3135fs) rs80359760
NM_000059.3(BRCA2):c.9501G>C (p.Glu3167Asp) rs80359808
NM_000059.3(BRCA2):c.956dupA (p.Asn319Lysfs) rs80359770
NM_000059.3(BRCA2):c.9583A>G (p.Thr3195Ala) rs80359227
NM_000059.3(BRCA2):c.9617_9619dup (p.Ile3207_Ile3208insLys) rs750833754
NM_000059.3(BRCA2):c.9648+1G>C rs730881573
NM_000059.3(BRCA2):c.9666del (p.Cys3222fs) rs80359772
NM_000059.3(BRCA2):c.971G>C (p.Arg324Thr) rs397507435
NM_000059.3(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241
NM_000059.3(BRCA2):c.9776T>C (p.Ile3259Thr) rs879255305
NM_000059.3(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000059.3(BRCA2):c.9920A>C (p.Lys3307Thr) rs879255304
NM_000059.3(BRCA2):c.994del (p.Ile332fs) rs80359777

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