ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories and "likely benign" from any submitter

Minimum review status of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories: Collection method of the submission from ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 544
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.127G>A (p.Glu43Lys) rs147559466
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000023.4(SGCA):c.421C>A (p.Arg141Ser) rs35130237
NM_000037.4(ANK1):c.1153C>T (p.Arg385Cys) rs142626656
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.6(APC):c.721G>A (p.Glu241Lys) rs777603154
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) rs138137162
NM_000051.3(ATM):c.4362A>C (p.Lys1454Asn) rs148993589
NM_000051.3(ATM):c.7592T>C (p.Met2531Thr) rs587781365
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000052.7(ATP7A):c.4414C>T (p.Arg1472Cys) rs782062633
NM_000053.4(ATP7B):c.1922T>C (p.Leu641Ser) rs186924074
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val) rs146303208
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.2029G>A (p.Glu677Lys)
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680
NM_000059.3(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327
NM_000059.3(BRCA2):c.10240A>G (p.Thr3414Ala) rs80358405
NM_000059.3(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.3(BRCA2):c.3326C>T (p.Ala1109Val) rs41293479
NM_000059.3(BRCA2):c.3539A>G (p.Lys1180Arg) rs28897720
NM_000059.3(BRCA2):c.3575T>G (p.Phe1192Cys) rs80358606
NM_000059.3(BRCA2):c.3661T>C (p.Ser1221Pro) rs80358611
NM_000059.3(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765
NM_000059.3(BRCA2):c.5495C>A (p.Ser1832Tyr) rs138489917
NM_000059.3(BRCA2):c.5498A>G (p.Asn1833Ser) rs587782601
NM_000059.3(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776
NM_000059.3(BRCA2):c.5896C>T (p.His1966Tyr) rs80358822
NM_000059.3(BRCA2):c.6323G>T (p.Arg2108Leu) rs35029074
NM_000059.3(BRCA2):c.6739A>G (p.Ser2247Gly) rs80358896
NM_000059.3(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912
NM_000059.3(BRCA2):c.7188G>T (p.Leu2396Phe) rs587780871
NM_000059.3(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978
NM_000059.3(BRCA2):c.7630G>A (p.Gly2544Ser) rs587781485
NM_000059.3(BRCA2):c.8356G>A (p.Ala2786Thr) rs80359077
NM_000059.3(BRCA2):c.9583A>G (p.Thr3195Ala) rs80359227
NM_000059.3(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241
NM_000059.3(BRCA2):c.9770A>G (p.Lys3257Arg) rs55847618
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718
NM_000059.4(BRCA2):c.4143AGA[1] (p.Glu1382del) rs80359432
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782
NM_000059.4(BRCA2):c.5869A>G (p.Ile1957Val) rs80358817
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
NM_000059.4(BRCA2):c.9501+3A>T rs61757642
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser) rs76635144
NM_000089.3(COL1A2):c.3313G>A (p.Gly1105Ser) rs139851311
NM_000090.3(COL3A1):c.1188C>T (p.Gly396=) rs745743884
NM_000090.3(COL3A1):c.1815+5G>A rs146652498
NM_000090.3(COL3A1):c.2498A>G (p.Lys833Arg) rs371344739
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln) rs781667754
NM_000112.3(SLC26A2):c.2087A>G (p.Asn696Ser) rs34351171
NM_000132.3(F8):c.748A>G (p.Met250Val) rs781943293
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000138.4(FBN1):c.1027G>A (p.Gly343Arg) rs146726731
NM_000138.4(FBN1):c.6052G>A (p.Val2018Ile) rs363802
NM_000138.4(FBN1):c.6577G>A (p.Glu2193Lys) rs201361628
NM_000138.4(FBN1):c.7617C>T (p.Gly2539=) rs1388794275
NM_000138.5(FBN1):c.1277C>T (p.Pro426Leu)
NM_000138.5(FBN1):c.2927G>A (p.Arg976His) rs140954477
NM_000179.2(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999
NM_000179.2(MSH6):c.628-7C>A rs373129248
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000243.2(MEFV):c.1043G>A (p.Arg348His) rs104895198
NM_000243.2(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.2(MEFV):c.1772T>C (p.Ile591Thr) rs11466045
NM_000243.2(MEFV):c.2292G>T (p.Gly764=) rs142352887
NM_000243.2(MEFV):c.910G>A (p.Gly304Arg) rs75977701
NM_000243.2(MEFV):c.986G>A (p.Arg329His) rs104895112
NM_000243.3(MEFV):c.1105C>T rs11466023
NM_000243.3(MEFV):c.1223G>A rs11466024
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049
NM_000251.2(MSH2):c.1275A>G (p.Glu425=) rs63751650
NM_000251.2(MSH2):c.4G>A (p.Ala2Thr) rs63750466
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774
NM_000254.2(MTR):c.1033G>A (p.Val345Ile) rs145006491
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606
NM_000260.4(MYO7A):c.4619C>T (p.Ala1540Val) rs111033511
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His) rs145766839
NM_000283.3(PDE6B):c.1497T>G (p.Phe499Leu) rs150000610
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971
NM_000298.6(PKLR):c.1516G>A (p.Val506Ile) rs8177988
NM_000298.6(PKLR):c.829G>A (p.Glu277Lys) rs147689373
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000326.5(RLBP1):c.9A>C (p.Glu3Asp) rs146844731
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.5(SCN5A):c.2437-5C>A rs72549411
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000342.4(SLC4A1):c.2055C>T (p.Thr685=) rs375136281
NM_000342.4(SLC4A1):c.337G>A (p.Val113Ile) rs142757938
NM_000342.4(SLC4A1):c.539G>A (p.Arg180His) rs147390654
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000368.5(TSC1):c.954GTT[1] (p.Leu320del) rs755655903
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074
NM_000393.5(COL5A2):c.2423C>T (p.Pro808Leu) rs575864379
NM_000398.7(CYB5R3):c.890G>A (p.Arg297His) rs76458556
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590
NM_000435.3(NOTCH3):c.3658C>T (p.Arg1220Trp) rs115872852
NM_000435.3(NOTCH3):c.4728G>C (p.Glu1576Asp)
NM_000435.3(NOTCH3):c.6061G>A (p.Val2021Met) rs199620476
NM_000435.3(NOTCH3):c.6092G>A (p.Arg2031His)
NM_000435.3(NOTCH3):c.6632A>G (p.Tyr2211Cys) rs369813654
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243
NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn) rs138462416
NM_000455.4(STK11):c.1045G>A (p.Glu349Lys) rs553752236
NM_000492.3(CFTR):c.*2G>A rs150914702
NM_000492.3(CFTR):c.221G>A (p.Arg74Gln) rs142540482
NM_000492.3(CFTR):c.2280G>A (p.Thr760=) rs138634146
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs1800103
NM_000492.3(CFTR):c.2620-26A>G rs201716473
NM_000492.3(CFTR):c.374T>C (p.Ile125Thr) rs141723617
NM_000492.3(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000518.5(HBB):c.274C>T (p.Leu92=) rs769583496
NM_000518.5(HBB):c.33C>A (p.Ala11=) rs35799536
NM_000530.8(MPZ):c.200G>A (p.Arg67His) rs201720099
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001
NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) rs137853247
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392
NM_000548.5(TSC2):c.2986A>G (p.Thr996Ala) rs139753238
NM_000558.5(HBA1):c.17C>A (p.Ala6Asp) rs34090856
NM_000558.5(HBA1):c.396T>C (p.Ser132=) rs149264789
NM_000637.5(GSR):c.694G>A (p.Gly232Ser) rs8190976
NM_000717.5(CA4):c.415A>T (p.Met139Leu) rs185658468
NM_000744.7(CHRNA4):c.1360G>A (p.Gly454Ser) rs78306886
NM_000883.4(IMPDH1):c.377T>C (p.Phe126Ser) rs367549284
NM_000891.2(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645
NM_000941.3(POR):c.683C>T (p.Pro228Leu) rs17853284
NM_001005360.2(DNM2):c.958G>A (p.Asp320Asn) rs150613209
NM_001007792.1(NTRK1):c.123-3404C>T rs201472270
NM_001007792.1(NTRK1):c.775C>A (p.Gln259Lys) rs137979116
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val) rs746910149
NM_001009944.3(PKD1):c.5648C>T (p.Ala1883Val) rs779745348
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) rs777024498
NM_001029883.3(PCARE):c.530C>T (p.Pro177Leu) rs190791051
NM_001034850.2(RETREG1):c.86C>T (p.Pro29Leu) rs528532732
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134
NM_001037.5(SCN1B):c.28G>A (p.Gly10Ser) rs72552027
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582
NM_001039213.4(CEACAM16):c.781G>A (p.Glu261Lys) rs201188632
NM_001042702.5(PJVK):c.86A>G (p.Asp29Gly) rs200502817
NM_001065.4(TNFRSF1A):c.935G>A (p.Arg312Lys) rs200900510
NM_001081.3(CUBN):c.2594G>A (p.Ser865Asn) rs138083522
NM_001093.4(ACACB):c.134A>G (p.Gln45Arg) rs139767464
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) rs781878646
NM_001110556.2(FLNA):c.7649C>T (p.Pro2550Leu) rs371724771
NM_001127671.2(LIFR):c.670A>G (p.Ile224Val) rs151282774
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser) rs200970763
NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln) rs202103485
NM_001142864.4(PIEZO1):c.3602C>T (p.Thr1201Met) rs372935580
NM_001142864.4(PIEZO1):c.645C>G (p.His215Gln) rs559847737
NM_001142864.4(PIEZO1):c.7130-5C>A rs1357808025
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys) rs371391349
NM_001142864.4(PIEZO1):c.7426C>T (p.Arg2476Cys) rs144035770
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val) rs200424400
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val) rs45570339
NM_001148.6(ANK2):c.3074G>C (p.Gly1025Ala) rs773532854
NM_001159773.2(CANT1):c.1063G>A (p.Asp355Asn)
NM_001232.4(CASQ2):c.1132GAT[5] (p.Asp383del) rs72554069
NM_001235.5(SERPINH1):c.97G>C (p.Ala33Pro)
NM_001267550.2(TTN):c.103292C>T (p.Thr34431Met) rs192001910
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684
NM_001267550.2(TTN):c.104261C>T (p.Ala34754Val) rs727505020
NM_001267550.2(TTN):c.105719G>A (p.Arg35240Gln) rs530537991
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615
NM_001267550.2(TTN):c.11311+2573T>C rs72647897
NM_001267550.2(TTN):c.11311+4672C>T rs149748934
NM_001267550.2(TTN):c.11311+5536A>G rs145581345
NM_001267550.2(TTN):c.11312-4319G>A rs72648913
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr) rs201744218
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241
NM_001267550.2(TTN):c.20630T>C (p.Ile6877Thr) rs142794598
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu) rs200061856
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981
NM_001267550.2(TTN):c.25563C>T (p.Gly8521=) rs556205722
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654
NM_001267550.2(TTN):c.28924A>G (p.Ser9642Gly) rs367888853
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505
NM_001267550.2(TTN):c.31070A>G (p.His10357Arg) rs1343660563
NM_001267550.2(TTN):c.31156G>A (p.Glu10386Lys) rs772195716
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019
NM_001267550.2(TTN):c.32731G>A (p.Glu10911Lys) rs199620003
NM_001267550.2(TTN):c.34601T>C (p.Leu11534Pro) rs376836503
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) rs201035457
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202
NM_001267550.2(TTN):c.4359A>T (p.Arg1453Ser) rs376857956
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485
NM_001267550.2(TTN):c.44323G>A (p.Val14775Met) rs540115992
NM_001267550.2(TTN):c.4671G>A (p.Met1557Ile) rs139192633
NM_001267550.2(TTN):c.46928A>G (p.His15643Arg) rs368502650
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231
NM_001267550.2(TTN):c.47196G>C (p.Val15732=) rs369979598
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637
NM_001267550.2(TTN):c.51527G>C (p.Gly17176Ala) rs768961892
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668
NM_001267550.2(TTN):c.52199A>C (p.Glu17400Ala) rs773027240
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901
NM_001267550.2(TTN):c.53096G>A (p.Arg17699His) rs72646808
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679
NM_001267550.2(TTN):c.55354T>C (p.Ser18452Pro) rs372541479
NM_001267550.2(TTN):c.583+5G>A rs397517663
NM_001267550.2(TTN):c.59926C>T (p.His19976Tyr) rs727503588
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260
NM_001267550.2(TTN):c.65672C>T (p.Pro21891Leu) rs397517662
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser) rs776256093
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) rs397517719
NM_001267550.2(TTN):c.82103A>G (p.Asp27368Gly) rs145373396
NM_001267550.2(TTN):c.82235C>A (p.Thr27412Lys) rs201489661
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile) rs750362675
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser) rs187460377
NM_001267550.2(TTN):c.89386G>A (p.Val29796Met) rs72648237
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val) rs182549226
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His) rs397517756
NM_001267550.2(TTN):c.97760G>A (p.Arg32587His) rs55704830
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala) rs368877793
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278
NM_001276345.2(TNNT2):c.720-13_720-11del rs397516480
NM_001278074.1(COL5A1):c.2096C>T (p.Thr699Met) rs142313124
NM_001278074.1(COL5A1):c.3983C>G (p.Pro1328Arg) rs140797509
NM_001278074.1(COL5A1):c.805G>A (p.Glu269Lys) rs761079177
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001360.3(DHCR7):c.765C>T (p.Phe255=) rs200132007
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748
NM_001365536.1(SCN9A):c.5711G>A (p.Arg1904His) rs79805025
NM_001370466.1(NOD2):c.2026C>T (p.Arg676Cys) rs5743277
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625
NM_001370466.1(NOD2):c.2296G>A (p.Val766Met) rs104895444
NM_001376.5(DYNC1H1):c.13072G>A (p.Ala4358Thr) rs547205132
NM_001376.5(DYNC1H1):c.9264-8T>G rs368432468
NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val) rs201967064
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val) rs202071528
NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile) rs200342335
NM_001457.4(FLNB):c.1640C>T (p.Ala547Val) rs200619215
NM_001457.4(FLNB):c.2005A>G (p.Thr669Ala) rs147481678
NM_001457.4(FLNB):c.2095C>T (p.Arg699Trp) rs200554477
NM_001457.4(FLNB):c.2453G>A (p.Arg818Gln) rs151259375
NM_001540.5(HSPB1):c.80G>C (p.Arg27Pro) rs367662394
NM_001754.4(RUNX1):c.1396A>T (p.Met466Leu) rs762213305
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593
NM_001844.5(COL2A1):c.2831C>T (p.Pro944Leu) rs140368756
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916
NM_001943.5(DSG2):c.1847C>T (p.Ala616Val) rs375527314
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546
NM_001985.3(ETFB):c.278C>T (p.Pro93Leu) rs139519507
NM_001985.3(ETFB):c.709G>A (p.Val237Ile) rs149129214
NM_001999.4(FBN2):c.2902A>G (p.Asn968Asp) rs774248421
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=) rs546172367
NM_001999.4(FBN2):c.4938C>T (p.Ile1646=) rs773597432
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843
NM_001999.4(FBN2):c.6946A>T (p.Ile2316Phe) rs201220519
NM_002180.2(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146
NM_002180.2(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615
NM_002234.4(KCNA5):c.213_245del (p.Asp72_Pro82del) rs144879674
NM_002234.4(KCNA5):c.634C>T (p.Arg212Cys) rs77281462
NM_002296.4(LBR):c.851C>T (p.Thr284Met) rs371750924
NM_002454.3(MTRR):c.1982A>G (p.His661Arg) rs148909799
NM_002471.4(MYH6):c.831G>T (p.Gln277His) rs140660481
NM_002474.3(MYH11):c.1502G>A (p.Arg501His) rs144244239
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys) rs111404182
NM_002474.3(MYH11):c.2665A>C (p.Lys889Gln) rs762308378
NM_002485.4(NBN):c.1720T>A (p.Leu574Ile) rs142334798
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002626.6(PFKL):c.2209C>T (p.Arg737Trp) rs118106526
NM_002661.5(PLCG2):c.77C>T (p.Thr26Met) rs189301790
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val) rs116464756
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile) rs150672767
NM_002838.5(PTPRC):c.566T>A (p.Ile189Asn) rs201715157
NM_003036.4(SKI):c.1258G>A (p.Ala420Thr) rs771862077
NM_003060.4(SLC22A5):c.1579G>C (p.Val527Leu) rs145792427
NM_003073.5(SMARCB1):c.90C>T (p.Ser30=) rs761868468
NM_003098.2(SNTA1):c.221C>T (p.Pro74Leu) rs572545726
NM_003098.2(SNTA1):c.770C>G (p.Ala257Gly) rs56157422
NM_003126.4(SPTA1):c.1181A>G (p.Asn394Ser) rs111834376
NM_003126.4(SPTA1):c.3062A>T (p.Asp1021Val) rs200511900
NM_003126.4(SPTA1):c.3230G>A (p.Arg1077His) rs199612744
NM_003126.4(SPTA1):c.33G>C (p.Glu11Asp) rs41273533
NM_003126.4(SPTA1):c.748C>T (p.Arg250Cys) rs143459302
NM_003172.4(SURF1):c.211G>C (p.Val71Leu) rs147993882
NM_003322.6(TULP1):c.823-4A>G rs200264819
NM_003482.3(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro) rs370243498
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319
NM_003640.5(ELP1):c.3869A>G (p.Asn1290Ser) rs145319352
NM_003978.5(PSTPIP1):c.1054G>A (p.Glu352Lys) rs201186216
NM_003978.5(PSTPIP1):c.1146G>A (p.Ala382=) rs760234757
NM_003978.5(PSTPIP1):c.1213C>T (p.Arg405Cys) rs201253322
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362
NM_004006.2(DMD):c.10846A>G (p.Thr3616Ala) rs368996545
NM_004006.2(DMD):c.1704+3G>A rs773123973
NM_004006.2(DMD):c.8255A>G (p.Tyr2752Cys) rs373832446
NM_004006.3(DMD):c.5701G>A (p.Ala1901Thr) rs201302282
NM_004086.3(COCH):c.272G>A (p.Arg91Gln) rs188283330
NM_004239.4(TRIP11):c.3604A>C (p.Asn1202His) rs41301481
NM_004281.4(BAG3):c.1588G>A (p.Val530Met) rs144678100
NM_004321.7(KIF1A):c.2631C>T (p.Gly877=) rs751977290
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser) rs781513008
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612
NM_004415.4(DSP):c.4175G>A (p.Arg1392Gln) rs201736018
NM_004517.4(ILK):c.631C>T (p.Arg211Cys) rs140322345
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627
NM_004895.4(NLRP3):c.214G>A (p.Val72Met) rs117287351
NM_004895.4(NLRP3):c.2182A>G (p.Ser728Gly) rs147946775
NM_004895.4(NLRP3):c.2861C>T (p.Thr954Met) rs139814109
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_005359.5(SMAD4):c.746_747delAGinsCC (p.Gln249Pro) rs587782209
NM_005359.6(SMAD4):c.424+5G>A rs200772603
NM_005422.2(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386
NM_005422.2(TECTA):c.5836T>C (p.Tyr1946His) rs144343770
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr) rs116630187
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063
NM_005529.7(HSPG2):c.149A>T (p.His50Leu) rs138518139
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His) rs775389963
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392
NM_005529.7(HSPG2):c.769C>T (p.Arg257Trp) rs535956121
NM_005529.7(HSPG2):c.8554G>A (p.Gly2852Arg) rs199942544
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=) rs369899077
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470
NM_005591.3(MRE11):c.1811G>C (p.Arg604Pro) rs148637964
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249
NM_005633.3(SOS1):c.1490G>A (p.Arg497Gln) rs371314838
NM_005633.3(SOS1):c.553A>G (p.Ile185Val) rs143962515
NM_005633.3(SOS1):c.749T>C (p.Val250Ala) rs139290271
NM_005633.4(SOS1):c.2225T>C (p.Ile742Thr)
NM_005751.4(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373
NM_005751.4(AKAP9):c.5284A>G (p.Lys1762Glu) rs568626378
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657
NM_006070.6(TFG):c.1060C>G (p.Pro354Ala) rs111356679
NM_006096.3(NDRG1):c.31G>A (p.Ala11Thr) rs145871479
NM_006231.3(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027
NM_006231.4(POLE):c.844C>T (p.Pro282Ser) rs138207610
NM_006254.4(PRKCD):c.1447C>T (p.Arg483Trp) rs35891605
NM_006308.3(HSPB3):c.347G>C (p.Arg116Pro) rs150931007
NM_006363.6(SEC23B):c.1512-10G>T rs770601333
NM_006371.4(CRTAP):c.1039C>T (p.Leu347Phe) rs115198029
NM_006371.4(CRTAP):c.655G>A (p.Gly219Ser) rs145048208
NM_006446.5(SLCO1B1):c.481+1G>T rs77271279
NM_006796.2(AFG3L2):c.2314C>T (p.Leu772Phe) rs117182113
NM_006904.6(PRKDC):c.4435G>C (p.Val1479Leu) rs199731143
NM_006904.6(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076
NM_006912.6(RIT1):c.634C>T (p.Arg212Trp) rs563231684
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys) rs587782527
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007272.3(CTRC):c.550G>A (p.Ala184Thr) rs761546594
NM_007272.3(CTRC):c.595A>T (p.Thr199Ser) rs751977111
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser) rs80356919
NM_007294.4(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175
NM_007294.4(BRCA1):c.4625C>G (p.Ser1542Cys) rs41293457
NM_007294.4(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239
NM_012224.3(NEK1):c.2805G>A (p.Ser935=) rs756830252
NM_013296.5(GPSM2):c.1739C>T (p.Ser580Leu) rs79730689
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His) rs34615430
NM_014646.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500
NM_014646.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314
NM_014646.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_014646.2(LPIN2):c.446C>T (p.Pro149Leu) rs147615538
NM_014646.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805
NM_014845.5(FIG4):c.2547-5T>G rs200267243
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu) rs150532677
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060
NM_015074.3(KIF1B):c.1633G>A (p.Gly545Arg) rs145266399
NM_015404.4(WHRN):c.1048C>T (p.Arg350Trp) rs142990800
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr) rs142653982
NM_015404.4(WHRN):c.19G>C (p.Gly7Arg) rs572671060
NM_015404.4(WHRN):c.2438C>T (p.Thr813Met)
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543
NM_016156.5(MTMR2):c.1106T>C (p.Ile369Thr) rs200083635
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276
NM_016204.4(GDF2):c.917G>A (p.Gly306Asp)
NM_016239.4(MYO15A):c.10054G>A (p.Ala3352Thr) rs367863299
NM_016239.4(MYO15A):c.10394G>A (p.Arg3465Gln) rs199783506
NM_016239.4(MYO15A):c.3196G>C (p.Ala1066Pro) rs199537186
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn) rs201415651
NM_016247.4(IMPG2):c.1223C>T (p.Thr408Met) rs148056371
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser) rs144320036
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015
NM_017636.4(TRPM4):c.2531G>A (p.Gly844Asp) rs200038418
NM_017636.4(TRPM4):c.566C>T (p.Ala189Val) rs145501662
NM_018400.3(SCN3B):c.328G>A (p.Val110Ile) rs147205617
NM_018400.3(SCN3B):c.60T>G (p.Ser20Arg) rs771342044
NM_018706.7(DHTKD1):c.721A>T (p.Met241Leu) rs149066296
NM_019844.4(SLCO1B3):c.1679T>C (p.Val560Ala) rs12299012
NM_019844.4(SLCO1B3):c.484T>G (p.Cys162Gly) rs140353351
NM_020070.4(IGLL1):c.437C>T (p.Thr146Met) rs112775194
NM_020366.3(RPGRIP1):c.930+3A>G rs150107283
NM_020631.5(PLEKHG5):c.928G>A (p.Asp310Asn) rs61730399
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met) rs144701688
NM_020779.4(WDR35):c.2066G>A (p.Arg689His) rs74470618
NM_020956.2(PRX):c.*1028C>A rs200033507
NM_020956.2(PRX):c.*2459G>A rs147587689
NM_020956.2(PRX):c.*3701C>T rs147826200
NM_021625.4(TRPV4):c.1546A>G (p.Ile516Val) rs115976458
NM_021625.4(TRPV4):c.1656del (p.Tyr553fs) rs541606391
NM_021939.4(FKBP10):c.1256C>T (p.Ser419Leu) rs146422412
NM_022041.3(GAN):c.1445C>T (p.Ala482Val) rs146576740
NM_022124.6(CDH23):c.2239C>T (p.Arg747Cys) rs200649500
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) rs200542052
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722
NM_022356.3(P3H1):c.1504G>C (p.Gly502Arg) rs139259804
NM_022356.3(P3H1):c.1529A>G (p.Asn510Ser) rs149894086
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe) rs201715539
NM_024009.3(GJB3):c.589G>A (p.Val197Ile) rs376506263
NM_024301.5(FKRP):c.235G>A (p.Val79Met) rs104894683
NM_024577.4(SH3TC2):c.3380G>A rs139192433
NM_024582.4(FAT4):c.12763G>A (p.Glu4255Lys) rs143513466
NM_024753.5(TTC21B):c.1676T>G (p.Val559Gly) rs149325238
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His) rs76726265
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563
NM_025132.4(WDR19):c.2671C>T (p.His891Tyr) rs200266424
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086
NM_030662.4(MAP2K2):c.853G>A (p.Asp285Asn) rs150369301
NM_030777.4(SLC2A10):c.1370C>T (p.Ala457Val) rs201393026
NM_030777.4(SLC2A10):c.317C>G (p.Ala106Gly) rs144095826
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys) rs28997571
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr) rs200115167
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) rs199587998
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487
NM_032578.4(MYPN):c.2863C>T (p.Arg955Trp) rs149887823
NM_032578.4(MYPN):c.3934C>T (p.Arg1312Trp) rs142354704
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105
NM_032890.5(DISP1):c.1322C>T (p.Thr441Met) rs114523965
NM_032978.7(DTNA):c.1207C>T (p.His403Tyr) rs139872140
NM_033056.4(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445
NM_033056.4(PCDH15):c.949T>A (p.Ser317Thr) rs140736502
NM_033100.4(CDHR1):c.1751C>T (p.Thr584Met)
NM_052945.3(TNFRSF13C):c.475C>T (p.His159Tyr) rs61756766
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile) rs199988497
NM_053025.4(MYLK):c.1991A>G (p.Gln664Arg) rs200273207
NM_053025.4(MYLK):c.2125G>A (p.Val709Met) rs112537316
NM_053025.4(MYLK):c.3843C>T (p.Ser1281=) rs377231739
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu) rs201179101
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399
NM_147127.5(EVC2):c.463T>C (p.Ser155Pro) rs143388379
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317
NM_153676.4(USH1C):c.1430G>A (p.Arg477Gln) rs146333270
NM_153676.4(USH1C):c.1823C>G (p.Pro608Arg) rs41282932
NM_153676.4(USH1C):c.1858C>T (p.Arg620Cys) rs143160805
NM_153676.4(USH1C):c.307C>T (p.Arg103Cys) rs397517880
NM_153700.2(STRC):c.4918C>T (p.Leu1640Phe) rs2920791
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser) rs372011095
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg) rs144851946
NM_177438.2(DICER1):c.3260C>T (p.Ala1087Val) rs180918578
NM_177438.2(DICER1):c.3553G>A (p.Ala1185Thr) rs150514959
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999
NM_182961.4(SYNE1):c.9148C>G (p.Leu3050Val) rs117360770
NM_182961.4(SYNE1):c.9715C>G (p.Gln3239Glu) rs149901087
NM_183059.2(RD3):c.494A>C (p.Asp165Ala) rs149051185
NM_184041.4(ALDOA):c.112+4C>T rs200278984
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506
NM_194248.3(OTOF):c.5292-9C>T rs372713647
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr) rs35719940
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg) rs145191532
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803
NM_206933.3(USH2A):c.13361T>A (p.Val4454Asp) rs148033154
NM_206933.3(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713
NM_206933.4(USH2A):c.12241C>T (p.Arg4081Trp) rs144783615
NM_206933.4(USH2A):c.14413G>A (p.Val4805Ile) rs147532612
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489
NM_206933.4(USH2A):c.7060C>T (p.Arg2354Cys) rs111033508
NM_206933.4(USH2A):c.7494T>A (p.Ser2498Arg) rs760977747
NR_003051.3(RMRP):n.140A>G rs578091934
Single allele rs28359170

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.