ClinVar Miner

List of variants studied for Hereditary cancer-predisposing syndrome by Vantari Genetics

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Total variants: 116
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HGVS dbSNP gnomAD frequency
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr) rs1800562 0.03880
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000249.4(MLH1):c.454-51T>C rs4647255 0.03218
NM_002354.3(EPCAM):c.492-5T>C rs78608315 0.02826
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_000251.3(MSH2):c.1760-62G>A rs17218439 0.02701
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_000051.4(ATM):c.5497-8T>C rs3092829 0.02183
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_024675.4(PALB2):c.212-58A>C rs80291632 0.02171
NM_000051.4(ATM):c.2639-17G>T rs2234994 0.02161
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) rs57605939 0.02101
NM_007294.4(BRCA1):c.5075-53C>T rs8176258 0.01914
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_024675.4(PALB2):c.1684+29A>G rs74320059 0.01884
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_004655.4(AXIN2):c.1615G>A (p.Val539Met) rs9913621 0.01361
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124 0.01216
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033 0.01036
NM_020975.6(RET):c.868-18G>A rs57098408 0.01028
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe) rs140118273 0.00997
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_001127511.3(APC):c.78C>A (p.Ser26Arg) rs113782655 0.00928
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_006206.6(PDGFRA):c.236G>A (p.Gly79Asp) rs36035373 0.00897
NM_004260.4(RECQL4):c.1564C>T (p.Arg522Cys) rs35407712 0.00877
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_000051.4(ATM):c.544G>C (p.Val182Leu) rs3218707 0.00757
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118 0.00745
NM_002354.3(EPCAM):c.77-11T>A rs114241106 0.00733
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp) rs79732150 0.00649
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000249.4(MLH1):c.545+20A>T rs121909453 0.00424
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_000548.5(TSC2):c.848+7G>A rs45442896 0.00376
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000059.4(BRCA2):c.67+82C>G rs189026060 0.00272
NM_001365951.3(KIF1B):c.3635C>T (p.Pro1212Leu) rs141224290 0.00255
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773 0.00197
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00179
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00154
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716 0.00110
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706 0.00079
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_005732.4(RAD50):c.671G>A (p.Arg224His) rs28903088 0.00065
NM_004655.4(AXIN2):c.1250C>T (p.Ala417Val) rs201460658 0.00064
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447 0.00064
NM_000245.4(MET):c.71G>A (p.Gly24Glu) rs180985111 0.00055
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_000264.5(PTCH1):c.2560+8G>A rs201541845 0.00049
NM_000245.4(MET):c.959C>T (p.Ala320Val) rs35776110 0.00045
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_000245.4(MET):c.1771C>T (p.Arg591Trp) rs45602940 0.00015
NM_002485.5(NBN):c.38-10T>A rs556807466 0.00015
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387 0.00010
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105 0.00007
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235 0.00006
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser) rs730881793 0.00005
NM_000059.4(BRCA2):c.3479G>A (p.Arg1160Lys) rs183920365 0.00002
NM_000059.4(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822 0.00002
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter) rs63749843 0.00002
NM_004360.5(CDH1):c.2264A>G (p.Tyr755Cys) rs187289510 0.00001
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000314.8(PTEN):c.802-18C>T rs376702513
NM_000548.5(TSC2):c.3884-17C>G rs45517317
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_007294.4(BRCA1):c.2157dup (p.Glu720fs) rs80357715
NM_032444.4(SLX4):c.2854_2855delinsAT (p.Ala952Met) rs863224277
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter) rs41341748

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