ClinVar Miner

Variants with conflicting interpretations "benign" from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen and "uncertain significance" from any submitter

Minimum review status of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen: Collection method of the submission from Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 138
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HGVS dbSNP gnomAD frequency
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_004415.4(DSP):c.2091A>G (p.Gly697=) rs2076304 0.76849
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_000552.5(VWF):c.4641T>C (p.Thr1547=) rs216310 0.71518
NM_000552.5(VWF):c.4141A>G (p.Thr1381Ala) rs216311 0.71493
NM_000546.6(TP53):c.215C>G (p.Pro72Arg) rs1042522 0.62654
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=) rs1064975 0.61566
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61317
NM_002529.4(NTRK1):c.1887C>T (p.Ala629=) rs6337 0.53946
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_000552.5(VWF):c.1451A>G (p.His484Arg) rs1800378 0.51348
NM_001605.3(AARS1):c.903C>T (p.His301=) rs2070203 0.49332
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_000312.4(PROC):c.-50A>T rs1799810 0.44475
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_014000.3(VCL):c.2388G>A (p.Pro796=) rs767809 0.42862
NM_001065.4(TNFRSF1A):c.36A>G (p.Pro12=) rs767455 0.39963
NM_001065.4(TNFRSF1A):c.625+10A>G rs1800693 0.38055
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757 0.34419
NM_000130.5(F5):c.5290A>G (p.Met1764Val) rs6030 0.29437
NM_021871.4(FGA):c.991A>G (p.Thr331Ala) rs6050 0.29256
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_018972.4(GDAP1):c.507T>G (p.Ser169=) rs11554166 0.27295
NM_000130.5(F5):c.2573A>G (p.Lys858Arg) rs4524 0.24159
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000455.5(STK11):c.920+7G>C rs2075607 0.16357
NM_000552.5(VWF):c.6846A>G (p.Thr2282=) rs1053523 0.15412
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr) rs6092 0.07905
NM_003476.5(CSRP3):c.336G>A (p.Ala112=) rs13451 0.07238
NM_000257.4(MYH7):c.1062C>T (p.Gly354=) rs735712 0.06133
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_000249.4(MLH1):c.1558+14G>A rs41562513 0.05554
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_001243133.2(NLRP3):c.2107C>A (p.Gln703Lys) rs35829419 0.03262
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384 0.02717
NM_000059.4(BRCA2):c.7397= (p.Val2466=) rs169547 0.02098
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 0.01664
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_000110.4(DPYD):c.1601G>A (p.Ser534Asn) rs1801158 0.01380
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser) rs140740776 0.01003
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 0.00372
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_000384.3(APOB):c.8353A>C (p.Asn2785His) rs2163204 0.00306
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_001267550.2(TTN):c.103147G>C (p.Glu34383Gln) rs148525155 0.00274
NM_001267550.2(TTN):c.26863A>G (p.Ile8955Val) rs72648994 0.00274
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00243
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His) rs55669553 0.00106
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr) rs111387770 0.00097
NM_001105206.3(LAMA4):c.1475T>A (p.Leu492His) rs3752579 0.00093
NM_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 0.00064
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_007194.4(CHEK2):c.*18C>T rs17884403 0.00037
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00020
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn) rs201541505 0.00017
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_004006.3(DMD):c.3432+10A>G rs746260475 0.00010
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu) rs118203553 0.00006
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105 0.00005
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853 0.00004
NM_000535.7(PMS2):c.*17G>C rs556089649 0.00004
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466 0.00002
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000179.3(MSH6):c.4002-11_4002-10del rs59056100
NM_000186.4(CFH):c.3134-5T>C rs513699
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000384.3(APOB):c.10913G>A (p.Arg3638Gln)
NM_000384.3(APOB):c.2188G>A (p.Val730Ile)
NM_000384.3(APOB):c.26TGGCGCTGC[1] (p.9LAL[1])
NM_000384.3(APOB):c.293C>T (p.Thr98Ile)
NM_000527.5(LDLR):c.1061-8T>C
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser) rs137853960
NM_000535.7(PMS2):c.706-4del rs60794673
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001267550.2(TTN):c.40222+2TA[9] rs10580462
NM_001267550.2(TTN):c.49814T>G (p.Val16605Gly) rs781195013
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del) rs782576893
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_002471.4(MYH6):c.3979-8dup rs193922652
NM_003070.5(SMARCA2):c.685_686insCGC (p.Gln228_Gln229insPro) rs751906633
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup) rs748325646
NM_004316.4(ASCL1):c.151CAG[16] (p.Gln62_Ala63insGlnGlnGlnGln) rs3832799
NM_004484.4(GPC3):c.1033-4250del rs372010975
NM_005159.5(ACTC1):c.809-58TG[25] rs59431308
NM_005159.5(ACTC1):c.809-58TG[26] rs59431308
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs) rs200056085
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly) rs4240659
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del) rs139624657
NM_213599.3(ANO5):c.295-8dup rs778435515
NR_178195.1(LFNG):n.265_268GATG[8] rs34637446

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