ClinVar Miner

List of variants reported as likely benign by Mayo Clinic Laboratories, Mayo Clinic

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 730
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.74+38C>G rs1642785 0.66254
NM_000158.4(GBE1):c.-28G>T rs368460254 0.48974
NM_003793.4(CTSF):c.126C>T (p.Pro42=) rs1044522 0.22868
NM_000293.3(PHKB):c.2309A>G (p.Tyr770Cys) rs16945474 0.07291
NM_000487.6(ARSA):c.1149C>T (p.Asp383=) rs6151425 0.04013
NM_003366.4(UQCRC2):c.548G>A (p.Arg183Gln) rs4850 0.03828
NM_024876.4(COQ8B):c.1055C>G (p.Thr352Arg) rs36012476 0.03290
NM_006351.4(TIMM44):c.1114A>G (p.Ile372Val) rs11542187 0.03212
NM_020745.4(AARS2):c.2188G>A (p.Val730Met) rs35623954 0.03189
NM_025219.3(DNAJC5):c.493+22C>T rs75028039 0.03082
NM_016292.3(TRAP1):c.2075G>A (p.Arg692His) rs2791 0.02823
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_006351.4(TIMM44):c.753C>G (p.Asn251Lys) rs118048213 0.02546
NM_014363.6(SACS):c.2080G>A (p.Ala694Thr) rs17325713 0.02528
NM_018122.5(DARS2):c.1013G>A (p.Gly338Glu) rs141298312 0.02511
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_022089.4(ATP13A2):c.3083+24C>T rs55885047 0.02459
NM_022089.4(ATP13A2):c.3235+17G>A rs56146840 0.02453
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201 0.02438
NM_024876.4(COQ8B):c.232C>T (p.Arg78Cys) rs11538384 0.02355
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_020320.5(RARS2):c.991A>G (p.Ile331Val) rs3757370 0.02330
NM_001002755.4(NFU1):c.286C>T (p.Arg96Cys) rs74637005 0.02312
NM_015340.4(LARS2):c.972C>A (p.His324Gln) rs71645922 0.02237
NM_198076.6(COX20):c.42+9G>A rs192100928 0.02237
NM_017866.6(TMEM70):c.346C>G (p.Leu116Val) rs61732273 0.02073
NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile) rs112780453 0.02065
NM_000292.3(PHKA2):c.112G>C (p.Glu38Gln) rs17313469 0.02052
NM_016098.4(MPC1):c.106C>A (p.Leu36Ile) rs11557064 0.02030
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
NM_001040108.2(MLH3):c.666G>A (p.Lys222=) rs28756980 0.01977
NM_000289.6(PFKM):c.306C>T (p.Ala102=) rs11552507 0.01954
NM_001040108.2(MLH3):c.444G>C (p.Val148=) rs11556091 0.01944
NM_001040108.2(MLH3):c.4242+13C>G rs77157930 0.01890
NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln) rs78651634 0.01784
NM_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
NM_001011719.2(ARSH):c.1611A>G (p.Pro537=) rs61978642 0.01676
NM_005002.5(NDUFA9):c.881C>T (p.Pro294Leu) rs34076756 0.01666
NM_004813.4(PEX16):c.760G>C (p.Val254Leu) rs35214605 0.01652
NM_004360.5(CDH1):c.2634C>T (p.Gly878=) rs2229044 0.01638
NM_000144.5(FXN):c.226A>G (p.Met76Val) rs59907886 0.01619
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile) rs62288347 0.01504
NM_000308.4(CTSA):c.1360-27C>T rs2077056 0.01488
NM_018060.4(IARS2):c.23G>T (p.Arg8Leu) rs149324758 0.01481
NM_000181.4(GUSB):c.724+26_724+27insTT rs139791587 0.01479
NM_002693.3(POLG):c.128A>G (p.Gln43Arg) rs28567406 0.01478
NM_000308.4(CTSA):c.53_54del (p.Leu18fs) rs562182818 0.01435
NM_020533.3(MCOLN1):c.1200C>T (p.Gly400=) rs28541364 0.01398
NM_000308.4(CTSA):c.1255-25G>T rs77361881 0.01383
NM_000293.3(PHKB):c.318T>C (p.Asp106=) rs17738933 0.01382
NM_014049.5(ACAD9):c.1430G>A (p.Arg477Gln) rs4494951 0.01364
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_153033.5(KCTD7):c.315-24C>T rs75672175 0.01333
NM_153033.5(KCTD7):c.654C>T (p.Asp218=) rs117194263 0.01331
NM_000642.3(AGL):c.3849T>C (p.Ala1283=) rs28730706 0.01312
NM_020549.5(CHAT):c.1198G>A (p.Asp400Asn) rs8178991 0.01308
NM_000263.4(NAGLU):c.764+19C>G rs77738617 0.01306
NM_002047.4(GARS1):c.11C>T (p.Pro4Leu) rs62636572 0.01280
NM_000642.3(AGL):c.3260-19G>A rs140333425 0.01279
NM_001909.5(CTSD):c.1215C>A (p.Gly405=) rs138733377 0.01277
NM_000642.3(AGL):c.1612-24C>A rs115666491 0.01263
NM_024996.7(GFM1):c.1601+9G>C rs77186707 0.01234
NM_000382.3(ALDH3A2):c.563C>T (p.Ala188Val) rs115977487 0.01228
NM_198834.3(ACACA):c.2082-10_2082-8dup rs147020148 0.01218
NM_005609.4(PYGM):c.1569C>G (p.Leu523=) rs114138772 0.01217
NM_000436.4(OXCT1):c.480G>T (p.Gly160=) rs78432029 0.01211
NM_000308.4(CTSA):c.51del (p.Leu18fs) rs564815597 0.01174
NM_000046.5(ARSB):c.312+29C>T rs537289342 0.01168
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084 0.01159
NM_001371596.2(MFSD8):c.573A>G (p.Thr191=) rs115275192 0.01140
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_182760.4(SUMF1):c.1015-22C>T rs77991674 0.01138
NM_018060.4(IARS2):c.1564A>G (p.Ile522Val) rs11800305 0.01131
NM_004046.6(ATP5F1A):c.667A>G (p.Ile223Val) rs77958705 0.01119
NM_003705.5(SLC25A12):c.728G>A (p.Arg243Lys) rs35881803 0.01111
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_006294.5(UQCRB):c.195G>A (p.Arg65=) rs11558865 0.01093
NM_000289.6(PFKM):c.2087G>A (p.Arg696His) rs41291971 0.01088
NM_001243177.4(ALDOA):c.1200C>T (p.Ser400=) rs77290575 0.01088
NM_004565.3(PEX14):c.768G>A (p.Val256=) rs36083022 0.01070
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser) rs80358251 0.01055
NM_000528.4(MAN2B1):c.2436+17C>T rs148420017 0.01054
NM_017866.6(TMEM70):c.580G>A (p.Val194Met) rs77410280 0.01045
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473 0.01029
NM_000512.5(GALNS):c.1002+17C>T rs78494153 0.01020
NM_139242.4(MTFMT):c.172T>A (p.Phe58Ile) rs188718836 0.01018
NM_001011719.2(ARSH):c.563G>A (p.Arg188His) rs142811205 0.01014
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_000249.4(MLH1):c.1039-29del rs746933807 0.01004
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664 0.00985
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_002637.4(PHKA1):c.538-25T>C rs149014464 0.00963
NM_001040108.2(MLH3):c.3570+28A>T rs67547819 0.00949
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) rs8139305 0.00949
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762 0.00944
NM_002076.4(GNS):c.21C>G (p.Ala7=) rs61743823 0.00937
NM_017547.4(FOXRED1):c.1139A>G (p.His380Arg) rs7116126 0.00931
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala) rs73346297 0.00930
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_020686.6(ABAT):c.603+3G>A rs41312254 0.00925
NM_022042.4(SLC26A1):c.*878G>A rs147498923 0.00924
NM_001011719.2(ARSH):c.340+18T>G rs146474927 0.00922
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873 0.00911
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457 0.00902
NM_004565.3(PEX14):c.213C>G (p.Gly71=) rs41274482 0.00899
NM_006351.4(TIMM44):c.184G>A (p.Gly62Ser) rs144317041 0.00890
NM_004035.7(ACOX1):c.921G>A (p.Arg307=) rs79677613 0.00869
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_000293.3(PHKB):c.2244C>G (p.Leu748=) rs34717357 0.00851
NM_021957.4(GYS2):c.280G>A (p.Ala94Thr) rs34225615 0.00845
NM_000391.4(TPP1):c.1076-18A>G rs78676565 0.00826
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_213595.4(ISCU):c.51G>A (p.Leu17=) rs112552261 0.00804
NM_182760.4(SUMF1):c.-9C>T rs148200251 0.00803
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_000512.5(GALNS):c.899-4C>G rs143793386 0.00779
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588 0.00775
NM_000293.3(PHKB):c.3121C>T (p.Arg1041Trp) rs12918964 0.00765
NM_003793.4(CTSF):c.939G>A (p.Gly313=) rs114727660 0.00758
NM_130837.3(OPA1):c.2961C>T (p.Arg987=) rs35540805 0.00758
NM_002863.5(PYGL):c.928C>T (p.Arg310Cys) rs35501326 0.00753
NM_130837.3(OPA1):c.2049A>G (p.Val683=) rs73069703 0.00753
NM_000310.4(PPT1):c.536+25T>C rs16826876 0.00744
NM_000642.3(AGL):c.1481G>A (p.Arg494His) rs141043166 0.00743
NM_006432.5(NPC2):c.442-4A>C rs114950106 0.00742
NM_020191.4(MRPS22):c.201A>G (p.Lys67=) rs11556243 0.00739
NM_004085.4(TIMM8A):c.-6C>T rs180806413 0.00726
NM_020686.6(ABAT):c.1269+4A>C rs183947905 0.00716
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_000038.6(APC):c.4326T>A (p.Pro1442=) rs67622085 0.00705
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00700
NM_025152.3(NUBPL):c.-1C>T rs45468395 0.00691
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217 0.00689
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_000153.4(GALC):c.1302C>T (p.Ser434=) rs3213918 0.00674
NM_001193313.2(SUGCT):c.1226C>T (p.Thr409Met) rs192063213 0.00672
NM_004035.7(ACOX1):c.80C>T (p.Pro27Leu) rs145082938 0.00672
NM_001916.5(CYC1):c.960A>C (p.Ala320=) rs35387134 0.00671
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00666
NM_000292.3(PHKA2):c.2077A>G (p.Ile693Val) rs143732206 0.00657
NM_022089.4(ATP13A2):c.3430G>A (p.Ala1144Thr) rs151181674 0.00646
NM_004614.5(TK2):c.94C>T (p.Arg32Trp) rs200121712 0.00636
NM_001083614.2(EARS2):c.402C>T (p.Thr134=) rs116657756 0.00624
NM_032520.5(GNPTG):c.255G>A (p.Pro85=) rs76594024 0.00606
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_000512.5(GALNS):c.1242+29G>A rs115524203 0.00597
NM_017827.4(SARS2):c.248C>T (p.Ser83Leu) rs34050897 0.00595
NM_001363118.2(SLC52A2):c.1089G>A (p.Pro363=) rs146292053 0.00593
NM_002617.4(PEX10):c.113-26C>T rs41315652 0.00590
NM_000271.5(NPC1):c.1554-1016C>T rs145998218 0.00584
NM_006012.4(CLPP):c.368-8G>A rs143053584 0.00583
NM_006351.4(TIMM44):c.69A>G (p.Gln23=) rs35992331 0.00569
NM_020442.6(VARS2):c.423G>A (p.Met141Ile) rs141408930 0.00569
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr) rs34778324 0.00568
NM_014402.5(UQCRQ):c.108C>G (p.Pro36=) rs36093416 0.00563
NM_001909.5(CTSD):c.1072-7G>A rs149019571 0.00560
NM_001040108.2(MLH3):c.408T>C (p.Asp136=) rs61755655 0.00552
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245 0.00552
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209 0.00551
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00549
NM_002087.4(GRN):c.264+7G>A rs60100877 0.00548
NM_000158.4(GBE1):c.143+11A>C rs145918282 0.00545
NM_001079866.2(BCS1L):c.-49-530C>T rs115162602 0.00544
NM_153638.4(PANK2):c.276G>A (p.Arg92=) rs142832849 0.00544
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu) rs57474185 0.00543
NM_004563.4(PCK2):c.190G>A (p.Asp64Asn) rs10132601 0.00541
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_016292.3(TRAP1):c.757A>G (p.Ile253Val) rs113476582 0.00536
NM_000310.4(PPT1):c.363-18C>G rs143235344 0.00531
NM_000290.4(PGAM2):c.366G>A (p.Pro122=) rs143830182 0.00529
NM_002617.4(PEX10):c.6C>G (p.Ala2=) rs112471479 0.00523
NM_000434.4(NEU1):c.352+27C>T rs41267078 0.00516
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_033109.5(PNPT1):c.1251G>A (p.Gly417=) rs146111948 0.00507
NM_001278716.2(FBXL4):c.978A>G (p.Gln326=) rs61744041 0.00506
NM_018109.4(MTPAP):c.158-9C>T rs139217290 0.00503
NM_005908.4(MANBA):c.177+26G>A rs369306444 0.00498
NM_001040108.2(MLH3):c.3987+15C>T rs117251698 0.00496
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_001909.5(CTSD):c.828-19A>C rs200047861 0.00494
NM_002055.5(GFAP):c.720G>T (p.Thr240=) rs2229012 0.00494
NM_018122.5(DARS2):c.228-21_228-20insC rs367543010 0.00491
NM_024876.4(COQ8B):c.381G>A (p.Gly127=) rs55895642 0.00488
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 0.00486
NM_004614.5(TK2):c.231+10C>T rs187517309 0.00486
NM_001083614.2(EARS2):c.16A>G (p.Arg6Gly) rs113722817 0.00485
NM_003501.3(ACOX3):c.1439G>C (p.Arg480Pro) rs114126152 0.00484
NM_001371596.2(MFSD8):c.199-8T>C rs112721309 0.00481
NM_004563.4(PCK2):c.747C>T (p.Phe249=) rs149974910 0.00478
NM_001136193.2(FASTKD2):c.29G>C (p.Ser10Thr) rs147727753 0.00476
NM_002496.4(NDUFS8):c.255G>A (p.Pro85=) rs144125742 0.00475
NM_017882.3(CLN6):c.769A>G (p.Ser257Gly) rs151295143 0.00475
NM_000152.5(GAA):c.546+18G>A rs190153982 0.00474
NM_022089.4(ATP13A2):c.132A>G (p.Pro44=) rs200816691 0.00471
NM_001909.5(CTSD):c.353-12C>T rs141523461 0.00468
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_000181.4(GUSB):c.1245-15C>T rs62470935 0.00464
NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp) rs147332381 0.00464
NM_012062.5(DNM1L):c.966C>T (p.Tyr322=) rs118169466 0.00464
NM_025152.3(NUBPL):c.77G>T (p.Gly26Val) rs77539990 0.00463
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894 0.00459
NM_000293.3(PHKB):c.2459A>T (p.Glu820Val) rs9934849 0.00453
NM_001271696.3(ABCB7):c.201G>C (p.Gln67His) rs114142266 0.00447
NM_000179.3(MSH6):c.3173-97T>C rs138463559 0.00436
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_012208.4(HARS2):c.868C>T (p.Leu290=) rs73273316 0.00427
NM_016098.4(MPC1):c.30G>A (p.Ala10=) rs79498685 0.00426
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992 0.00419
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000249.4(MLH1):c.453+25A>G rs4647246 0.00414
NM_000038.6(APC):c.933+30A>G rs145211300 0.00412
NM_018122.5(DARS2):c.1642C>A (p.Leu548Met) rs149660059 0.00412
NM_198834.3(ACACA):c.547C>A (p.Arg183=) rs111441513 0.00408
NM_016013.4(NDUFAF1):c.-6T>G rs180730324 0.00404
NM_003501.3(ACOX3):c.378+11G>A rs146248344 0.00400
NM_024876.4(COQ8B):c.1347C>T (p.Phe449=) rs142420160 0.00400
NM_001698.3(AUH):c.927A>G (p.Glu309=) rs78739693 0.00399
NM_000249.4(MLH1):c.307-29C>A rs139620056 0.00398
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00398
NM_024312.5(GNPTAB):c.204-21G>C rs12322848 0.00393
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_000642.3(AGL):c.3384G>A (p.Ala1128=) rs149393587 0.00383
NM_000290.4(PGAM2):c.375G>A (p.Pro125=) rs145985559 0.00382
NM_014324.6(AMACR):c.837G>A (p.Thr279=) rs35655488 0.00378
NM_018122.5(DARS2):c.1192-28del rs60221533 0.00376
NM_000642.3(AGL):c.2883A>G (p.Arg961=) rs113625417 0.00375
NM_015697.9(COQ2):c.30G>A (p.Arg10_Lys11=) rs183012002 0.00375
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile) rs2723669 0.00374
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=) rs34715591 0.00373
NM_000642.3(AGL):c.3362+22T>A rs79435569 0.00373
NM_000199.5(SGSH):c.249+25G>T rs200104349 0.00372
NM_002168.4(IDH2):c.1304C>T (p.Thr435Met) rs118053940 0.00372
NM_004360.5(CDH1):c.-84G>A rs374268061 0.00369
NM_014297.5(ETHE1):c.227-9C>G rs199921503 0.00367
NM_001243177.4(ALDOA):c.411A>G (p.Thr137=) rs76767223 0.00362
NM_000487.6(ARSA):c.1002C>T (p.Ser334=) rs147027229 0.00358
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_000543.5(SMPD1):c.1561C>T (p.Leu521=) rs147258619 0.00349
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) rs148036492 0.00346
NM_001010867.4(IBA57):c.980T>C (p.Ile327Thr) rs61745091 0.00343
NM_020442.6(VARS2):c.607G>A (p.Gly203Arg) rs73430135 0.00342
NM_005984.5(SLC25A1):c.894T>C (p.Asp298=) rs144180074 0.00340
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_000642.3(AGL):c.3260-20T>C rs17121560 0.00332
NM_020442.6(VARS2):c.876G>A (p.Val292=) rs147636694 0.00332
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968 0.00328
NM_006351.4(TIMM44):c.138A>G (p.Pro46=) rs145509783 0.00327
NM_024884.3(L2HGDH):c.6G>T (p.Val2=) rs113626637 0.00324
NM_025215.6(PUS1):c.999G>C (p.Leu333=) rs150359622 0.00323
NM_152783.5(D2HGDH):c.720C>A (p.Thr240=) rs147210645 0.00323
NM_020686.6(ABAT):c.817-6A>G rs140106845 0.00319
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_000436.4(OXCT1):c.733-3T>C rs77000151 0.00315
NM_002979.5(SCP2):c.675-6T>C rs115815213 0.00313
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_004553.6(NDUFS6):c.96C>A (p.Val32=) rs140619622 0.00311
NM_016065.4(MRPS16):c.389C>G (p.Thr130Arg) rs117510230 0.00309
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_002858.4(ABCD3):c.1356A>G (p.Gly452=) rs147293586 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_000235.4(LIPA):c.1113A>G (p.Glu371=) rs116827211 0.00302
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) rs142023670 0.00298
NM_198834.3(ACACA):c.1009-3A>C rs184995115 0.00298
NM_198834.3(ACACA):c.6924G>A (p.Ala2308=) rs141608509 0.00298
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000396.4(CTSK):c.675A>G (p.Arg225=) rs41271965 0.00297
NM_000528.4(MAN2B1):c.844C>T (p.Pro282Ser) rs45576136 0.00296
NM_002488.5(NDUFA2):c.129G>A (p.Glu43=) rs73271536 0.00293
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00286
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_003172.4(SURF1):c.54+10G>A rs587598397 0.00276
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile) rs61743028 0.00274
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_003465.3(CHIT1):c.585C>T (p.Tyr195=) rs114168492 0.00272
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_003465.3(CHIT1):c.26-22C>T rs142814183 0.00268
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_016035.5(COQ4):c.424G>A (p.Ala142Thr) rs34043652 0.00268
NM_000292.3(PHKA2):c.3282+13G>A rs200925279 0.00267
NM_002863.5(PYGL):c.1683C>T (p.Ser561=) rs145471351 0.00262
NM_004937.3(CTNS):c.462-7C>A rs189632527 0.00259
NM_000038.6(APC):c.3264G>A (p.Lys1088=) rs114774495 0.00255
NM_000286.3(PEX12):c.680+26T>C rs141894911 0.00255
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_000152.5(GAA):c.2481+16G>A rs41292408 0.00252
NM_000308.4(CTSA):c.105C>T (p.Ile35=) rs150140984 0.00238
NM_000179.3(MSH6):c.3439-16C>T rs192614006 0.00237
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00237
NM_001610.4(ACP2):c.773-20C>T rs111271272 0.00237
NM_004360.5(CDH1):c.345G>A (p.Thr115=) rs1801023 0.00236
NM_000126.4(ETFA):c.186+7A>G rs184587113 0.00231
NM_020533.3(MCOLN1):c.1272C>T (p.Ser424=) rs147754092 0.00231
NM_033109.5(PNPT1):c.122G>C (p.Ser41Thr) rs140796438 0.00229
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_001011719.2(ARSH):c.428T>G (p.Val143Gly) rs143533816 0.00227
NM_005609.4(PYGM):c.1403+24G>A rs71581782 0.00226
NM_000153.4(GALC):c.1862G>A (p.Arg621His) rs192911803 0.00224
NM_003465.3(CHIT1):c.258-6T>C rs184235051 0.00223
NM_005670.4(EPM2A):c.393G>A (p.Glu131=) rs61758155 0.00223
NM_001953.5(TYMP):c.735G>A (p.Gln245=) rs139223629 0.00222
NM_001303.4(COX10):c.929-7C>T rs62052075 0.00220
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=) rs36100288 0.00220
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912 0.00217
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_020549.5(CHAT):c.438C>T (p.Tyr146=) rs61731734 0.00210
NM_020745.4(AARS2):c.2253G>A (p.Gly751=) rs78397386 0.00210
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu) rs149102738 0.00209
NM_002541.4(OGDH):c.936-7G>A rs116644435 0.00209
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_016360.4(TACO1):c.498T>C (p.His166=) rs17549732 0.00202
NM_001909.5(CTSD):c.639C>G (p.Pro213=) rs146073498 0.00197
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_000249.4(MLH1):c.790+10A>G rs182733777 0.00188
NM_020549.5(CHAT):c.1248C>T (p.Asn416=) rs116071049 0.00187
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00184
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_152416.4(NDUFAF6):c.663A>G (p.Pro221=) rs193102273 0.00182
NM_198834.3(ACACA):c.3475-10T>C rs192888791 0.00182
NM_005566.4(LDHA):c.608G>C (p.Gly203Ala) rs34305721 0.00181
NM_000293.3(PHKB):c.400G>A (p.Asp134Asn) rs144486825 0.00176
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu) rs116424900 0.00176
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322 0.00175
NM_007215.4(POLG2):c.927C>T (p.His309=) rs73332195 0.00175
NM_016292.3(TRAP1):c.933T>C (p.His311=) rs142413437 0.00172
NM_020320.5(RARS2):c.155A>T (p.Lys52Ile) rs73496064 0.00172
NM_000235.4(LIPA):c.756A>C (p.Ile252=) rs145037134 0.00170
NM_004655.4(AXIN2):c.1713-18G>A rs147664289 0.00169
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_000203.5(IDUA):c.1524+24G>A rs538040010 0.00167
NM_004544.4(NDUFA10):c.548-9A>G rs147876332 0.00166
NM_007294.4(BRCA1):c.21C>T (p.Arg7=) rs149402012 0.00165
NM_000249.4(MLH1):c.885-24T>A rs201594027 0.00164
NM_001386393.1(PANK2):c.489G>A (p.Leu163=) rs71647837 0.00164
NM_001953.5(TYMP):c.1074A>G (p.Arg358=) rs372847627 0.00163
NM_012208.4(HARS2):c.324T>C (p.Tyr108=) rs143687204 0.00162
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069 0.00161
NM_032273.4(TMEM126A):c.191G>A (p.Arg64His) rs11556797 0.00161
NM_000179.3(MSH6):c.3801+17T>C rs3136365 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000294.3(PHKG2):c.288C>T (p.Ser96=) rs56029513 0.00158
NM_014236.4(GNPAT):c.925-16G>A rs41305723 0.00157
NM_003849.4(SUCLG1):c.900C>T (p.Ala300=) rs113840224 0.00155
NM_001916.5(CYC1):c.454-9C>T rs191769818 0.00152
NM_000271.5(NPC1):c.3331C>T (p.Leu1111=) rs151125564 0.00150
NM_021147.5(CCNO):c.134C>A (p.Pro45His) rs139606873 0.00150
NM_000152.5(GAA):c.692+17G>C rs199559553 0.00147
NM_021957.4(GYS2):c.2005G>A (p.Asp669Asn) rs142656537 0.00146
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878 0.00143
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_000251.3(MSH2):c.1661+73A>G rs180805863 0.00142
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_004329.3(BMPR1A):c.1560G>A (p.Thr520=) rs142775086 0.00136
NM_005005.3(NDUFB9):c.201C>T (p.Ala67=) rs142579814 0.00135
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_212552.3(BOLA3):c.258+9A>C rs201380456 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_000405.5(GM2A):c.427-22C>T rs183697013 0.00131
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975 0.00130
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) rs142553521 0.00128
NM_001040108.2(MLH3):c.4242+28G>C rs188956387 0.00128
NM_014324.6(AMACR):c.-22C>G rs35448266 0.00123
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_145691.4(ATPAF2):c.346T>C (p.Leu116=) rs144484457 0.00118
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_000038.6(APC):c.423-17T>A rs534684461 0.00114
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=) rs143015234 0.00114
NM_130837.3(OPA1):c.2880A>G (p.Arg960=) rs144898877 0.00109
NM_002103.5(GYS1):c.234A>G (p.Glu78=) rs146683677 0.00107
NM_000046.5(ARSB):c.903C>T (p.Asn301=) rs147495977 0.00106
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_000434.4(NEU1):c.408G>A (p.Gly136=) rs41267074 0.00106
NM_004453.4(ETFDH):c.1812G>A (p.Val604=) rs17843967 0.00103
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718 0.00101
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_001303.4(COX10):c.981C>T (p.Asn327=) rs146175179 0.00098
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_003465.3(CHIT1):c.447C>T (p.Ala149=) rs139891908 0.00094
NM_020533.3(MCOLN1):c.32-10A>G rs371191277 0.00093
NM_000038.6(APC):c.835-24A>T rs200399868 0.00091
NM_001739.2(CA5A):c.214A>C (p.Arg72=) rs150841082 0.00088
NM_000152.5(GAA):c.1755-18T>C rs201399518 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_023036.6(DNAI2):c.1715C>T (p.Pro572Leu) rs151241589 0.00081
NM_000202.8(IDS):c.1181-13C>T rs188486717 0.00078
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938 0.00077
NM_152419.3(HGSNAT):c.342C>T (p.Asn114=) rs184883937 0.00077
NM_004453.4(ETFDH):c.832-10T>G rs200911913 0.00076
NM_004655.4(AXIN2):c.270C>T (p.Asp90=) rs141655687 0.00076
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_133259.4(LRPPRC):c.1928A>G (p.His643Arg) rs148575027 0.00074
NM_001010867.4(IBA57):c.210G>C (p.Leu70=) rs199589485 0.00073
NM_018838.5(NDUFA12):c.66C>G (p.Gly22=) rs141719682 0.00073
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_020320.5(RARS2):c.456T>C (p.Asn152=) rs141374913 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_001040108.2(MLH3):c.3571-26G>T rs369710216 0.00069
NM_005908.4(MANBA):c.*8T>G rs199881261 0.00068
NM_024120.5(NDUFAF5):c.216G>A (p.Lys72=) rs377716355 0.00067
NM_001008215.3(COA5):c.*3C>G rs372867268 0.00065
NM_000249.4(MLH1):c.1039-25T>A rs764852270 0.00064
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_003366.4(UQCRC2):c.582C>T (p.Asp194=) rs146640786 0.00063
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_020549.5(CHAT):c.327G>A (p.Thr109=) rs79914771 0.00060
NM_001040716.2(PC):c.216G>A (p.Thr72=) rs117711892 0.00058
NM_000152.5(GAA):c.858+8G>A rs5822325 0.00055
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_007294.4(BRCA1):c.301+8T>C rs80358101 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_198076.6(COX20):c.87C>T (p.Cys29=) rs140032239 0.00052
NM_000027.4(AGA):c.127+22G>A rs369583737 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_004655.4(AXIN2):c.1908-21C>G rs190627728 0.00051
NM_000520.6(HEXA):c.-4G>A rs766510036 0.00050
NM_000249.4(MLH1):c.1039-24T>A rs1285179213 0.00048
NM_005006.7(NDUFS1):c.153+9A>G rs200675161 0.00048
NM_005006.7(NDUFS1):c.873-9G>A rs180899908 0.00048
NM_007103.4(NDUFV1):c.348C>T (p.Asn116=) rs139824241 0.00047
NM_000271.5(NPC1):c.1554-1010C>T rs142706876 0.00046
NM_000310.4(PPT1):c.799-19A>C rs367820578 0.00046
NM_004655.4(AXIN2):c.2052G>A (p.Ala684=) rs200573256 0.00046
NM_020320.5(RARS2):c.78A>C (p.Thr26=) rs138360045 0.00046
NM_000642.3(AGL):c.39C>T (p.Asn13=) rs138203039 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000199.5(SGSH):c.1317C>T (p.Tyr439=) rs146522699 0.00044
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_020442.6(VARS2):c.864G>A (p.Ser288=) rs59234326 0.00043
NM_000249.4(MLH1):c.702G>A (p.Glu234=) rs35908749 0.00041
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965 0.00041
NM_001040436.3(YARS2):c.870T>C (p.Val290=) rs142067801 0.00041
NM_024312.5(GNPTAB):c.3335+14G>A rs141927805 0.00041
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575 0.00040
NM_000249.4(MLH1):c.198C>T (p.Thr66=) rs61751642 0.00040
NM_004329.3(BMPR1A):c.430+25G>A rs200416589 0.00040
NM_213595.4(ISCU):c.448C>T (p.Leu150=) rs11548226 0.00039
NM_000038.6(APC):c.730-22G>C rs115634618 0.00037
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00037
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049 0.00035
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_022089.4(ATP13A2):c.1926G>A (p.Ala642=) rs200916673 0.00034
NM_000293.3(PHKB):c.3145-25C>G rs144484726 0.00032
NM_001098.3(ACO2):c.987C>T (p.Asp329=) rs140823998 0.00031
NM_152419.3(HGSNAT):c.108G>A (p.Ala36=) rs886062952 0.00031
NM_000382.3(ALDH3A2):c.465A>G (p.Leu155=) rs149865400 0.00030
NM_001953.5(TYMP):c.1443G>A (p.Gln481=) rs377497287 0.00030
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_000059.4(BRCA2):c.4686A>G (p.Gln1562=) rs28897730 0.00026
NM_006012.4(CLPP):c.216C>T (p.Ala72=) rs746981582 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_000038.6(APC):c.221-29G>C rs369645686 0.00025
NM_000251.3(MSH2):c.1277-16T>C rs368653974 0.00024
NM_014363.6(SACS):c.8577C>T (p.His2859=) rs140016265 0.00024
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_005763.4(AASS):c.168G>A (p.Lys56=) rs141727397 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654 0.00022
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422 0.00021
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_005006.7(NDUFS1):c.1029T>G (p.Gly343=) rs72944827 0.00021
NM_000152.5(GAA):c.1888+10_1888+11insC rs748036956 0.00020
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417 0.00019
NM_000528.4(MAN2B1):c.2766C>T (p.Ala922=) rs150866794 0.00018
NM_000546.6(TP53):c.1014C>T (p.Phe338=) rs150293825 0.00018
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_004360.5(CDH1):c.1353T>C (p.Ile451=) rs114192597 0.00014
NM_015340.4(LARS2):c.1383T>C (p.Ile461=) rs35347543 0.00014
NM_001909.5(CTSD):c.1077G>A (p.Ser359=) rs138940129 0.00013
NM_017827.4(SARS2):c.1317C>T (p.Thr439=) rs556892787 0.00013
NM_022089.4(ATP13A2):c.3235+13G>A rs369278996 0.00013
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000249.4(MLH1):c.843A>C (p.Ala281=) rs146796765 0.00012
NM_001126121.2(SLC25A19):c.567C>T (p.Ala189=) rs370578595 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile) rs28897715 0.00011
NM_000143.4(FH):c.6C>T (p.Tyr2=) rs199971078 0.00011
NM_000382.3(ALDH3A2):c.1208-30A>C rs376485655 0.00011
NM_001136193.2(FASTKD2):c.1080T>C (p.Leu360=) rs376045225 0.00011
NM_138395.4(MARS2):c.60C>T (p.Leu20=) rs201033319 0.00011
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460 0.00010
NM_000251.3(MSH2):c.1386+23T>G rs747646424 0.00010
NM_000314.8(PTEN):c.-290A>T rs985226639 0.00010
NM_002693.3(POLG):c.2724C>T (p.Ala908=) rs377390914 0.00010
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_000251.3(MSH2):c.2802G>A (p.Thr934=) rs150259097 0.00009
NM_000455.5(STK11):c.862+26A>C rs762458568 0.00009
NM_005566.4(LDHA):c.435C>T (p.Tyr145=) rs770829264 0.00009
NM_000038.6(APC):c.4212C>A (p.Ser1404=) rs144655979 0.00008
NM_000038.6(APC):c.729+31A>G rs374626709 0.00007
NM_000249.4(MLH1):c.277A>G (p.Ser93Gly) rs41295282 0.00007
NM_000271.5(NPC1):c.2130+26T>A rs201543574 0.00006
NM_001386393.1(PANK2):c.132C>T (p.Asp44=) rs781106176 0.00006
NM_001739.2(CA5A):c.267G>A (p.Ala89=) rs377436710 0.00006
NM_005984.5(SLC25A1):c.711A>T (p.Gly237=) rs375963287 0.00006
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923 0.00006
NM_015294.6(TRIM37):c.2136C>T (p.Ser712=) rs768860943 0.00006
NM_015294.6(TRIM37):c.2169A>G (p.Ala723=) rs771713259 0.00006
NM_018122.5(DARS2):c.1192-29_1192-28del rs1491323897 0.00006
NM_020745.4(AARS2):c.147C>T (p.Phe49=) rs766876544 0.00006
NM_024120.5(NDUFAF5):c.222+8C>G rs113659919 0.00006
NM_025150.5(TARS2):c.2052G>C (p.Arg684=) rs74443150 0.00006
NM_032901.4(COX14):c.150A>G (p.Glu50=) rs372336241 0.00006
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00005
NM_000179.3(MSH6):c.2239C>T (p.Leu747=) rs63751305 0.00005
NM_000642.3(AGL):c.1971A>G (p.Thr657=) rs767863471 0.00005
NM_001040108.2(MLH3):c.3828-15A>C rs200169541 0.00005
NM_002693.3(POLG):c.125G>A (p.Arg42Gln) rs74382477 0.00005
NM_014324.6(AMACR):c.204T>A (p.Arg68=) rs1057472198 0.00005
NM_018127.7(ELAC2):c.983+9G>A rs760385942 0.00005
NM_000038.6(APC):c.3876G>A (p.Thr1292=) rs377494451 0.00004
NM_000059.4(BRCA2):c.6739A>G (p.Ser2247Gly) rs80358896 0.00004
NM_000179.3(MSH6):c.2904C>G (p.Val968=) rs150683226 0.00004
NM_000179.3(MSH6):c.4002-25T>C rs199500983 0.00004
NM_000314.8(PTEN):c.-121A>G rs886047395 0.00004
NM_001042432.2(CLN3):c.*29A>G rs778438984 0.00004
NM_001278716.2(FBXL4):c.9G>A (p.Pro3=) rs773041308 0.00004
NM_001351132.2(PEX5):c.147+59A>C rs183090244 0.00004
NM_002633.3(PGM1):c.99C>T (p.Ala33=) rs373394538 0.00004
NM_004655.4(AXIN2):c.2004G>A (p.Gly668=) rs144092307 0.00004
NM_007294.4(BRCA1):c.2669G>T (p.Gly890Val) rs80356874 0.00004
NM_017827.4(SARS2):c.1347+9C>T rs371086137 0.00004
NM_177924.5(ASAH1):c.258A>G (p.Thr86=) rs572874216 0.00004
NM_000038.6(APC):c.477C>T (p.Tyr159=) rs863224281 0.00003
NM_000059.4(BRCA2):c.7632C>T (p.Gly2544=) rs551834979 0.00003
NM_000159.4(GCDH):c.396G>T (p.Arg132=) rs1160521098 0.00003
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000414.4(HSD17B4):c.112+15T>G rs763381588 0.00003
NM_002617.4(PEX10):c.435G>A (p.Met145Ile) rs368273118 0.00003
NM_003705.5(SLC25A12):c.1386G>A (p.Thr462=) rs777556606 0.00003
NM_004130.4(GYG1):c.319-15C>T rs146500395 0.00003
NM_007294.4(BRCA1):c.3822A>C (p.Val1274=) rs372396487 0.00003
NM_213595.4(ISCU):c.46C>T (p.Leu16=) rs779184027 0.00003
NM_000249.4(MLH1):c.1558+22C>T rs863225374 0.00002
NM_000546.6(TP53):c.18A>C (p.Ser6=) rs573130482 0.00002
NM_001271696.3(ABCB7):c.1161C>T (p.Val387=) rs756266541 0.00002
NM_003172.4(SURF1):c.834-5C>T rs370520197 0.00002
NM_004208.4(AIFM1):c.1719C>G (p.Val573=) rs771940618 0.00002
NM_004655.4(AXIN2):c.135C>T (p.Val45=) rs376726966 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_021957.4(GYS2):c.2100A>G (p.Glu700=) rs753004525 0.00002
NM_000027.4(AGA):c.698+27C>T rs756597510 0.00001
NM_000038.6(APC):c.1310C>G (p.Pro437Arg) rs762936223 0.00001
NM_000038.6(APC):c.136-18T>C rs1261769588 0.00001
NM_000038.6(APC):c.1629T>C (p.Val543=) rs779848042 0.00001
NM_000038.6(APC):c.5430T>G (p.Asp1810Glu) rs149828124 0.00001
NM_000038.6(APC):c.5952T>C (p.Asn1984=) rs142019870 0.00001
NM_000059.4(BRCA2):c.4725C>T (p.Asp1575=) rs752402938 0.00001
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn) rs80358967 0.00001
NM_000059.4(BRCA2):c.8061T>C (p.Val2687=) rs776992904 0.00001
NM_000179.3(MSH6):c.3396T>A (p.Val1132=) rs1026907245 0.00001
NM_000199.5(SGSH):c.606C>T (p.Ser202=) rs544509805 0.00001
NM_000251.3(MSH2):c.804A>G (p.Ser268=) rs876658954 0.00001
NM_000293.3(PHKB):c.1971+29A>G rs974712790 0.00001
NM_000414.4(HSD17B4):c.1107T>C (p.Ser369=) rs1485011447 0.00001
NM_000414.4(HSD17B4):c.1210-11C>G rs779466683 0.00001
NM_000487.6(ARSA):c.618C>T (p.Phe206=) rs370296376 0.00001
NM_000546.6(TP53):c.769C>T (p.Leu257=) rs779761818 0.00001
NM_000546.6(TP53):c.891C>T (p.His297=) rs750578863 0.00001
NM_001040108.2(MLH3):c.3716-10C>T rs374204567 0.00001
NM_001040716.2(PC):c.2706C>T (p.Gly902=) rs73489729 0.00001
NM_001303.4(COX10):c.561C>T (p.Pro187=) rs371712806 0.00001
NM_001610.4(ACP2):c.451-29G>A rs375804831 0.00001
NM_001953.5(TYMP):c.357G>C (p.Gly119=) rs759788267 0.00001
NM_004329.3(BMPR1A):c.676-5T>C rs200537780 0.00001
NM_004655.4(AXIN2):c.1962C>A (p.Gly654=) rs377642903 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
NM_006493.4(CLN5):c.173+30G>A rs1373592431 0.00001
NM_016292.3(TRAP1):c.312C>T (p.Ser104=) rs144716962 0.00001
NM_020686.6(ABAT):c.648G>A (p.Ala216=) rs767550217 0.00001
NM_024120.5(NDUFAF5):c.213G>C (p.Leu71=) rs753565445 0.00001
NM_024312.5(GNPTAB):c.1422G>A (p.Gly474=) rs775742250 0.00001
NM_025150.5(TARS2):c.1618-5T>C rs765812601 0.00001
NM_080916.3(DGUOK):c.492C>T (p.Ile164=) rs148915942 0.00001
NM_153033.5(KCTD7):c.-24C>T rs1554397227 0.00001
NM_182760.4(SUMF1):c.726-16G>T rs999626972 0.00001
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000033.4(ABCD1):c.1683C>T (p.Asp561=) rs199997983
NM_000033.4(ABCD1):c.1780+25A>G rs782547918
NM_000036.3(AMPD1):c.63T>C (p.Ala21=) rs151258843
NM_000038.6(APC):c.1408+27A>G rs863225312
NM_000038.6(APC):c.220+28A>G rs200746873
NM_000038.6(APC):c.3429T>C (p.Tyr1143=) rs1554084999
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.4761A>G (p.Ser1587=) rs863224280
NM_000038.6(APC):c.777G>T (p.Arg259=) rs147704593
NM_000059.4(BRCA2):c.1167G>T (p.Pro389=) rs148607710
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.5574A>G (p.Thr1858=) rs1555284278
NM_000059.4(BRCA2):c.7528C>T (p.Leu2510=) rs1555286272
NM_000152.5(GAA):c.2190-29G>A rs142573163
NM_000153.4(GALC):c.69G>T (p.Ser23=) rs763851570
NM_000158.4(GBE1):c.1447-40dup rs11376242
NM_000169.3(GLA):c.1290A>G (p.Ter430=) rs1555984712
NM_000179.3(MSH6):c.2187C>A (p.Ala729=) rs375610656
NM_000179.3(MSH6):c.2745C>G (p.Ala915=) rs876658904
NM_000179.3(MSH6):c.2877C>T (p.Arg959=) rs781734958
NM_000179.3(MSH6):c.3384T>C (p.Tyr1128=) rs544518097
NM_000179.3(MSH6):c.3557-4del rs267608102
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+49_4001+50insCTAACTGACCTTAAGTTTCAA rs863225419
NM_000181.4(GUSB):c.*23G>T rs751073317
NM_000199.5(SGSH):c.88+23C>G rs77032342
NM_000202.8(IDS):c.709-671dup rs1196180401
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1479C>G (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1524+25GGGCC[2] rs572565537
NM_000249.4(MLH1):c.2091C>T (p.Leu697=) rs536488280
NM_000251.3(MSH2):c.212-4dup rs746333570
NM_000271.5(NPC1):c.1947+10G>C rs71534236
NM_000271.5(NPC1):c.2131-21dup rs11299077
NM_000271.5(NPC1):c.2604+15dup rs746440359
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=) rs55724504
NM_000271.5(NPC1):c.956-7C>T rs537484682
NM_000284.4(PDHA1):c.489C>T (p.Gly163=) rs1555933962
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000291.4(PGK1):c.937-17dup rs782576397
NM_000293.3(PHKB):c.710+31dup rs201321914
NM_000308.4(CTSA):c.54G>C (p.Leu18=) rs181943893
NM_000314.8(PTEN):c.*78T>G rs1554826080
NM_000314.8(PTEN):c.-500GGC[4] rs1237307954
NM_000314.8(PTEN):c.-534G>T rs886047385
NM_000314.8(PTEN):c.-534_-533delinsTT rs1554890129
NM_000314.8(PTEN):c.-838C>T rs786201900
NM_000314.8(PTEN):c.209+7A>G rs1554897284
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000404.4(GLB1):c.1143+28G>C rs149712618
NM_000535.7(PMS2):c.-24C>G rs748909615
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.24-12_24-11del rs1554306636
NM_000543.5(SMPD1):c.132G>T (p.Ala44=) rs1554933861
NM_000546.6(TP53):c.96+14T>C rs757865517
NM_000546.6(TP53):c.96+25ACCTGGAGGGCTGGGG[3] rs59758982
NM_000642.3(AGL):c.1155G>A (p.Lys385=) rs28730701
NM_000642.3(AGL):c.4162-11G>A rs184309460
NM_001010867.4(IBA57):c.192C>T (p.Pro64=) rs988464666
NM_001011719.2(ARSH):c.396G>C (p.Pro132=) rs61746890
NM_001040108.2(MLH3):c.3828-24del rs761256304
NM_001040436.3(YARS2):c.930G>A (p.Pro310=) rs147551647
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn) rs146610181
NM_001080449.3(DNA2):c.1058-6del rs201474338
NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu) rs73274785
NM_001126049.2(KLLN):c.-955G>T rs587781128
NM_001354768.3(NRL):c.-27-15516_-27-15515inv
NM_001358921.2(COQ2):c.18C>G (p.Ala6=) rs772719748
NM_001386393.1(PANK2):c.201C>T (p.Ala67=) rs756936934
NM_001866.3(COX7B):c.*5C>A rs781818697
NM_002076.4(GNS):c.253-10del rs201654719
NM_002087.4(GRN):c.-14G>C rs1237619973
NM_002087.4(GRN):c.828G>T (p.Ala276=) rs761530797
NM_002294.3(LAMP2):c.-23_-16del rs1556124290
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1] rs193922648
NM_002541.4(OGDH):c.39A>C (p.Pro13=) rs34777281
NM_002618.4(PEX13):c.914-30A>G rs1553425139
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del) rs41550117
NM_002693.3(POLG):c.153G>A (p.Gln51=) rs1453538834
NM_002693.3(POLG):c.159A>G (p.Gln53=) rs587781118
NM_002693.3(POLG):c.856-17CTC[4] rs200056162
NM_002863.5(PYGL):c.-31GCAGCCCGCCGC[1] rs561479231
NM_002863.5(PYGL):c.1828-21G>A rs75220125
NM_003321.5(TUFM):c.923-7G>A rs200807950
NM_003705.5(SLC25A12):c.1172-10del rs535710884
NM_003705.5(SLC25A12):c.1338A>C (p.Pro446=) rs149278617
NM_003846.3(PEX11B):c.56+25T>G rs1482449951
NM_003849.4(SUCLG1):c.98-13_98-11del rs56733272
NM_003849.4(SUCLG1):c.98-14_98-11del rs56733272
NM_003849.4(SUCLG1):c.98-17_98-11del rs56733272
NM_003850.3(SUCLA2):c.-3_-2del rs570547911
NM_004130.4(GYG1):c.319-19C>T rs144099043
NM_004563.4(PCK2):c.1479C>T (p.Ile493=) rs1555342382
NM_005566.4(LDHA):c.835-15del rs35006409
NM_005566.4(LDHA):c.835-19_835-15dup rs35006409
NM_005609.4(PYGM):c.1621-19del rs571976523
NM_005670.4(EPM2A):c.302-17A>G rs1286332017
NM_005726.6(TSFM):c.58-7C>T rs1555204197
NM_007294.4(BRCA1):c.2523G>A (p.Arg841=) rs773013395
NM_007294.4(BRCA1):c.4443A>C (p.Ala1481=) rs1555582589
NM_012062.5(DNM1L):c.*21_*22delinsCT rs34421401
NM_014236.4(GNPAT):c.569-11del rs199905093
NM_014317.5(PDSS1):c.1027-33_1027-30delinsAATA rs1554798939
NM_015294.6(TRIM37):c.2229A>G (p.Ser743=) rs1555650856
NM_015294.6(TRIM37):c.810-13dup rs367700401
NM_015340.4(LARS2):c.945G>A (p.Ser315=) rs145135580
NM_015340.4(LARS2):c.945G>C (p.Ser315=) rs145135580
NM_015713.5(RRM2B):c.*4dup (p.Ter352=) rs1314882154
NM_015713.5(RRM2B):c.27G>A (p.Ala9=) rs1432702866
NM_017827.4(SARS2):c.1539C>G (p.Gly513=) rs749749393
NM_018006.5(TRMU):c.60C>A (p.Ala20=) rs1188059840
NM_018109.3(MTPAP):c.-5del rs749648774
NM_018122.5(DARS2):c.1192-28C>A rs768250843
NM_018122.5(DARS2):c.128-6_128-5del rs746151025
NM_018238.4(AGK):c.424-5C>T rs113599212
NM_020533.3(MCOLN1):c.1011G>A (p.Gln337=) rs1164919725
NM_020686.6(ABAT):c.1326C>T (p.Phe442=) rs201566019
NM_022089.4(ATP13A2):c.1354-24C>T rs146588989
NM_022089.4(ATP13A2):c.706-13G>T rs374468183
NM_024312.5(GNPTAB):c.1613-34dup rs546802775
NM_024884.3(L2HGDH):c.336A>G (p.Leu112=) rs59390116
NM_024996.7(GFM1):c.193C>A (p.Arg65=) rs62286651
NM_032520.5(GNPTG):c.179-28C>G rs746507546
NM_032520.5(GNPTG):c.204G>C (p.Ser68=) rs777517766
NM_130837.3(OPA1):c.1407A>C (p.Thr469=) rs1553877924
NM_139242.4(MTFMT):c.16C>T (p.Arg6Trp) rs199599204
NM_139242.4(MTFMT):c.646-6_646-5del rs372515409
NM_152416.4(NDUFAF6):c.51C>A (p.Ile17=) rs113557846
NM_153033.5(KCTD7):c.405G>C (p.Gly135=) rs555039386
NM_153033.5(KCTD7):c.493+22T>A rs1554300882
NM_182760.4(SUMF1):c.*10_*11delinsGT rs71623163
NM_198834.3(ACACA):c.4777-8dup rs149182938
NM_198834.3(ACACA):c.999T>C (p.Asp333=) rs1419961791

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.