ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from SIB Swiss Institute of Bioinformatics and "pathogenic" from any submitter

Minimum review status of the submission from SIB Swiss Institute of Bioinformatics: Collection method of the submission from SIB Swiss Institute of Bioinformatics:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 374
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HGVS dbSNP gnomAD frequency
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val) rs61755320 0.00361
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg) rs117225135 0.00190
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_144666.3(DNHD1):c.8782C>T (p.Arg2928Ter) rs199752008 0.00136
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535 0.00123
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_004539.4(NARS1):c.1067A>C (p.Asp356Ala) rs138016359 0.00088
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529 0.00067
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) rs115047866 0.00067
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) rs137901350 0.00066
NM_206933.4(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051 0.00056
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_153747.2(PIGC):c.61C>T (p.Arg21Ter) rs115209243 0.00031
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn) rs28934891 0.00026
NM_005518.4(HMGCS2):c.634G>A (p.Gly212Arg) rs137852638 0.00026
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282 0.00025
NM_022437.3(ABCG8):c.1720G>A (p.Gly574Arg) rs137852988 0.00022
NM_001144869.3(LIPT2):c.377T>G (p.Leu126Arg) rs753904927 0.00020
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe) rs150518260 0.00019
NM_000348.4(SRD5A2):c.680G>A (p.Arg227Gln) rs9332964 0.00016
NM_004183.4(BEST1):c.584C>T (p.Ala195Val) rs200277476 0.00016
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870 0.00013
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_144988.4(ALG14):c.220G>A (p.Asp74Asn) rs769114543 0.00012
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe) rs370444838 0.00011
NM_007186.6(CEP250):c.4006C>T (p.Arg1336Ter) rs774702094 0.00011
NM_003504.5(CDC45):c.469C>T (p.Arg157Cys) rs540217942 0.00010
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778 0.00010
NM_000329.3(RPE65):c.1205G>A (p.Trp402Ter) rs774130993 0.00009
NM_001102564.3(IFT43):c.100G>A (p.Glu34Lys) rs140366557 0.00009
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys) rs143739249 0.00009
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00008
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286 0.00007
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys) rs141210410 0.00007
NM_024844.5(NUP85):c.1933C>T (p.Arg645Trp) rs368572297 0.00007
NM_001139.3(ALOX12B):c.1579G>A (p.Val527Met) rs199545653 0.00006
NM_001930.4(DHPS):c.518A>G (p.Asn173Ser) rs758100382 0.00006
NM_002226.5(JAG2):c.2515G>A (p.Gly839Arg) rs781734780 0.00006
NM_006440.5(TXNRD2):c.1341T>G (p.Tyr447Ter) rs202059967 0.00006
NM_018230.3(NUP133):c.3164T>C (p.Leu1055Ser) rs376476266 0.00006
NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr) rs529924080 0.00006
NM_020158.4(EXOSC5):c.341C>T (p.Thr114Ile) rs542429051 0.00006
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212 0.00006
NM_001144869.3(LIPT2):c.89T>C (p.Leu30Pro) rs539962457 0.00005
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro) rs121918550 0.00005
NM_020374.4(C12orf4):c.983T>C (p.Leu328Pro) rs1468772495 0.00005
NM_000049.4(ASPA):c.79G>A (p.Gly27Arg) rs766328537 0.00004
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser) rs143947056 0.00004
NM_000478.6(ALPL):c.979T>C (p.Phe327Leu) rs121918010 0.00004
NM_025103.4(IFT74):c.535C>G (p.Gln179Glu) rs150219690 0.00004
NM_181741.4(ORC4):c.521A>G (p.Tyr174Cys) rs387906847 0.00004
NM_000329.3(RPE65):c.952T>A (p.Tyr318Asn) rs61752905 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001243133.2(NLRP3):c.55G>C (p.Asp19His) rs200154873 0.00003
NM_001387263.1(PATL2):c.478C>T (p.Arg160Ter) rs548527219 0.00003
NM_004539.4(NARS1):c.50C>T (p.Thr17Met) rs148893823 0.00003
NM_004551.3(NDUFS3):c.595C>T (p.Arg199Trp) rs104894270 0.00003
NM_005337.5(NCKAP1L):c.1111A>G (p.Met371Val) rs750982844 0.00003
NM_006852.6(TLK2):c.1636C>T (p.Arg546Trp) rs1283838287 0.00003
NM_014874.4(MFN2):c.1085C>T (p.Thr362Met) rs387906991 0.00003
NM_015693.4(INTU):c.1499A>C (p.Glu500Ala) rs1360128571 0.00003
NM_018646.6(TRPV6):c.1274G>A (p.Arg425Gln) rs1281361203 0.00003
NM_020779.4(WDR35):c.932G>T (p.Trp311Leu) rs200649783 0.00003
NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp) rs398123012 0.00003
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu) rs146876145 0.00002
NM_001129.5(AEBP1):c.1743C>A (p.Cys581Ter) rs777647845 0.00002
NM_003504.5(CDC45):c.677A>G (p.Asp226Gly) rs754080445 0.00002
NM_003801.4(GPAA1):c.527G>C (p.Trp176Ser) rs782220208 0.00002
NM_005205.4(COX6A2):c.127T>C (p.Cys43Arg) rs1275864234 0.00002
NM_005337.5(NCKAP1L):c.1076C>T (p.Pro359Leu) rs770633648 0.00002
NM_018646.6(TRPV6):c.1352G>A (p.Gly451Glu) rs759393722 0.00002
NM_020964.3(EPG5):c.1007A>G (p.Gln336Arg) rs201757275 0.00002
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr) rs773774134 0.00002
NM_000019.4(ACAT1):c.472A>G (p.Asn158Asp) rs148639841 0.00001
NM_000046.5(ARSB):c.944G>A (p.Arg315Gln) rs727503809 0.00001
NM_000053.4(ATP7B):c.254G>T (p.Gly85Val) rs786204643 0.00001
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg) rs28936383 0.00001
NM_000335.5(SCN5A):c.5347G>A (p.Glu1783Lys) rs137854601 0.00001
NM_000709.4(BCKDHA):c.868G>A (p.Gly290Arg) rs137852871 0.00001
NM_001013838.3(CARMIL2):c.1916T>A (p.Leu639His) rs775061512 0.00001
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser) rs771145682 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
NM_001135022.2(ELMOD3):c.512A>G (p.His171Arg) rs1280785617 0.00001
NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg) rs1190703859 0.00001
NM_001162498.3(LPAR6):c.565G>A (p.Glu189Lys) rs121434309 0.00001
NM_001171155.2(PET100):c.142C>T (p.Gln48Ter) rs587779779 0.00001
NM_001195263.2(PDZD7):c.682G>A (p.Gly228Arg) rs753034799 0.00001
NM_001354483.2(CSGALNACT1):c.1151C>G (p.Pro384Arg) rs746391651 0.00001
NM_001367975.1(BTG4):c.166G>A (p.Ala56Thr) rs1865879702 0.00001
NM_001372106.1(DNAH10):c.13192G>A (p.Gly4398Arg) rs759073156 0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter) rs121909724 0.00001
NM_003630.3(PEX3):c.991G>A (p.Gly331Arg) rs1057523689 0.00001
NM_003676.4(DEGS1):c.517C>T (p.Arg173Ter) rs932183417 0.00001
NM_004539.4(NARS1):c.1633C>T (p.Arg545Cys) rs770931044 0.00001
NM_004795.4(KL):c.578A>G (p.His193Arg) rs121908423 0.00001
NM_005518.4(HMGCS2):c.1499G>A (p.Arg500His) rs137852639 0.00001
NM_006613.4(GRAP):c.311A>T (p.Gln104Leu) rs370564476 0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928 0.00001
NM_007186.6(CEP250):c.3463C>T (p.Arg1155Ter) rs749314857 0.00001
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329 0.00001
NM_017752.3(TBC1D8B):c.738G>C (p.Gln246His) rs761410195 0.00001
NM_018965.4(TREM2):c.132G>A (p.Trp44Ter) rs104894001 0.00001
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter) rs104893998 0.00001
NM_018965.4(TREM2):c.377T>G (p.Val126Gly) rs121908402 0.00001
NM_020374.4(C12orf4):c.1360C>T (p.Arg454Ter) rs749969789 0.00001
NM_020719.3(PRR12):c.3505C>T (p.Arg1169Trp) rs1435355373 0.00001
NM_020964.3(EPG5):c.1249C>T (p.Arg417Ter) rs961245497 0.00001
NM_020964.3(EPG5):c.136C>T (p.Gln46Ter) rs866435487 0.00001
NM_020964.3(EPG5):c.7333C>T (p.Arg2445Ter) rs780889226 0.00001
NM_020964.3(EPG5):c.7447C>T (p.Arg2483Ter) rs863225064 0.00001
NM_021067.5(GINS1):c.455G>A (p.Cys152Tyr) rs376610445 0.00001
NM_025103.4(IFT74):c.85C>T (p.Arg29Ter) rs751583919 0.00001
NM_033198.4(PIGS):c.108G>A (p.Trp36Ter) rs1263517814 0.00001
NM_139343.3(BIN1):c.700C>T (p.Arg234Cys) rs777176261 0.00001
NM_144666.3(DNHD1):c.5560C>T (p.Arg1854Cys) rs1035842147 0.00001
NM_144666.3(DNHD1):c.911G>A (p.Arg304Gln) rs369544858 0.00001
NM_152513.4(MEI1):c.3452G>A (p.Trp1151Ter) rs749779829 0.00001
NM_153747.2(PIGC):c.635T>C (p.Leu212Pro) rs1553259602 0.00001
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met) rs202175091 0.00001
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000090.4(COL3A1):c.3851G>A (p.Gly1284Glu) rs587779528
NM_000125.4(ESR1):c.1181G>A (p.Arg394His) rs1131692059
NM_000138.5(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000214.3(JAG1):c.701G>A (p.Cys234Tyr) rs121918353
NM_000218.3(KCNQ1):c.1016T>C (p.Phe339Ser) rs199472759
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000660.7(TGFB1):c.1159T>C (p.Cys387Arg) rs1336387628
NM_000660.7(TGFB1):c.133C>T (p.Arg45Cys) rs1555755308
NM_000660.7(TGFB1):c.328C>T (p.Arg110Cys) rs1555755242
NM_001007228.2(SPOP):c.248A>G (p.Tyr83Cys) rs2072168176
NM_001007228.2(SPOP):c.362G>A (p.Arg121Gln) rs2072157379
NM_001007228.2(SPOP):c.395G>T (p.Gly132Val) rs2072155694
NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys) rs968974699
NM_001007228.2(SPOP):c.430G>A (p.Asp144Asn) rs2072153488
NM_001007228.2(SPOP):c.73A>G (p.Thr25Ala) rs2072244773
NM_001013838.3(CARMIL2):c.1115T>G (p.Leu372Arg) rs1567628757
NM_001013838.3(CARMIL2):c.149G>C (p.Arg50Thr) rs1567626023
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001037333.3(CYFIP2):c.260G>C (p.Arg87Pro) rs1554108163
NM_001037333.3(CYFIP2):c.260G>T (p.Arg87Leu) rs1554108163
NM_001083619.3(GRIA2):c.1582C>A (p.Pro528Thr) rs1735294501
NM_001083619.3(GRIA2):c.1825G>A (p.Gly609Arg) rs1735303754
NM_001083619.3(GRIA2):c.1831G>A (p.Asp611Asn) rs1553956958
NM_001083619.3(GRIA2):c.1915G>T (p.Ala639Ser) rs1579377564
NM_001083619.3(GRIA2):c.905A>G (p.Asp302Gly) rs1735116193
NM_001100.4(ACTA1):c.215C>G (p.Pro72Arg) rs1659978909
NM_001102564.3(IFT43):c.520T>C (p.Trp174Arg) rs1555369050
NM_001103.4(ACTN2):c.1459T>C (p.Cys487Arg) rs1572140109
NM_001103.4(ACTN2):c.2180T>G (p.Leu727Arg) rs1572148902
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter) rs121909324
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) rs1554310600
NM_001135651.3(EIF2AK2):c.388G>A (p.Gly130Arg) rs2148705154
NM_001135651.3(EIF2AK2):c.388G>C (p.Gly130Arg) rs2148705154
NM_001162498.3(LPAR6):c.188A>T (p.Asp63Val) rs879255262
NM_001162498.3(LPAR6):c.436G>A (p.Gly146Arg) rs121434308
NM_001164760.2(PRKAR1B):c.586G>A (p.Glu196Lys) rs76344857
NM_001164811.2(PET117):c.172C>T (p.Gln58Ter) rs2037617604
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter) rs764333096
NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu) rs1554709662
NM_001190737.2(NFIB):c.395T>C (p.Leu132Pro) rs1554709654
NM_001195263.2(PDZD7):c.1500C>A (p.Tyr500Ter) rs953422571
NM_001195263.2(PDZD7):c.307G>C (p.Gly103Arg) rs148695069
NM_001195263.2(PDZD7):c.854T>G (p.Met285Arg) rs1554835827
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter) rs1057523275
NM_001204375.2(NPR3):c.1088A>T (p.Asp363Val) rs1741953064
NM_001204375.2(NPR3):c.442T>C (p.Ser148Pro) rs1433125500
NM_001244008.2(KIF1A):c.1048C>G (p.Arg350Gly) rs387907259
NM_001244008.2(KIF1A):c.1894C>T (p.Gln632Ter) rs2050749062
NM_001244008.2(KIF1A):c.206C>T (p.Ser69Leu) rs786200949
NM_001244008.2(KIF1A):c.232G>A (p.Gly78Ser) rs1057518760
NM_001244008.2(KIF1A):c.304G>A (p.Gly102Ser) rs1064795534
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln) rs1575654528
NM_001244008.2(KIF1A):c.4278C>G (p.Tyr1426Ter) rs572662012
NM_001244008.2(KIF1A):c.500G>A (p.Arg167His) rs2054757914
NM_001244008.2(KIF1A):c.595G>A (p.Gly199Arg) rs1553638614
NM_001244008.2(KIF1A):c.604G>C (p.Ala202Pro) rs672601366
NM_001244008.2(KIF1A):c.647G>A (p.Arg216His) rs672601368
NM_001244008.2(KIF1A):c.920G>A (p.Arg307Gln) rs1064793161
NM_001244008.2(KIF1A):c.920G>C (p.Arg307Pro) rs1064793161
NM_001257291.2(SLC9A7):c.1543C>T (p.Leu515Phe) rs1569507511
NM_001318852.2(MAPK8IP3):c.111C>G (p.Tyr37Ter) rs770703007
NM_001318852.2(MAPK8IP3):c.1334T>C (p.Leu445Pro) rs1567198751
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys) rs1567203083
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys) rs1567214097
NM_001321380.2(PIK3C2A):c.-75-13528T>G rs1565287817
NM_001321759.2(CDIN1):c.281A>G (p.Tyr94Cys) rs587777101
NM_001321759.2(CDIN1):c.533T>A (p.Leu178Gln) rs587777100
NM_001353345.2(SETD1B):c.5653C>T (p.Arg1885Trp) rs1876920040
NM_001353345.2(SETD1B):c.5833T>C (p.Phe1945Leu) rs1877026127
NM_001353812.2(ATP11C):c.1244C>A (p.Thr415Asn) rs1556323334
NM_001354483.2(CSGALNACT1):c.1294G>T (p.Asp432Tyr) rs2054868908
NM_001367975.1(BTG4):c.73C>T (p.Gln25Ter) rs1865886567
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001378974.1(FBXW11):c.1150C>T (p.Arg384Trp) rs1758081729
NM_001378974.1(FBXW11):c.1154C>A (p.Ala385Asp) rs1758081491
NM_001378974.1(FBXW11):c.787G>C (p.Gly263Arg) rs1759346639
NM_001384910.1(GUCA1A):c.250C>T (p.Leu84Phe) rs869320709
NM_001384910.1(GUCA1A):c.320T>C (p.Ile107Thr) rs869320710
NM_001387263.1(PATL2):c.784C>T (p.Arg262Ter) rs1351320025
NM_001397406.1(FDX2):c.422C>T (p.Pro141Leu) rs888630930
NM_001563.4(IMPG1):c.1736T>C (p.Leu579Pro) rs1782008883
NM_001829.4(CLCN3):c.1709C>T (p.Thr570Ile) rs1732900321
NM_001829.4(CLCN3):c.1820T>C (p.Ile607Thr) rs2150267036
NM_001930.4(DHPS):c.912_917del (p.Tyr305_Ile306del) rs1568317152
NM_001982.4(ERBB3):c.2359A>C (p.Thr787Pro) rs2136818517
NM_001982.4(ERBB3):c.2695G>A (p.Val899Met) rs2136822199
NM_002430.3(MN1):c.3745G>T (p.Glu1249Ter) rs761317200
NM_002470.4(MYH3):c.859T>G (p.Phe287Val) rs1567560080
NM_002470.4(MYH3):c.998C>G (p.Thr333Arg) rs1567559562
NM_002576.5(PAK1):c.1286A>G (p.Tyr429Cys) rs1565583382
NM_002576.5(PAK1):c.392A>G (p.Tyr131Cys) rs1565638316
NM_002715.4(PPP2CA):c.263A>G (p.Asp88Gly) rs1561737008
NM_002715.4(PPP2CA):c.572A>G (p.His191Arg) rs915349596
NM_002715.4(PPP2CA):c.667G>C (p.Asp223His) rs1580636668
NM_002715.4(PPP2CA):c.794A>G (p.Tyr265Cys) rs1561733474
NM_002715.4(PPP2CA):c.922_924dup (p.Phe308dup) rs864622012
NM_003036.4(SKI):c.100G>A (p.Gly34Ser) rs387907306
NM_003108.4(SOX11):c.146T>A (p.Ile49Asn)
NM_003108.4(SOX11):c.170T>C (p.Met57Thr) rs2103276340
NM_003108.4(SOX11):c.226A>G (p.Asn76Asp) rs1665660543
NM_003108.4(SOX11):c.299G>C (p.Arg100Pro) rs1064794628
NM_003108.4(SOX11):c.337T>C (p.Tyr113His)
NM_003108.4(SOX11):c.700G>T (p.Glu234Ter) rs780122780
NM_003108.4(SOX11):c.820A>T (p.Lys274Ter)
NM_003120.3(SPI1):c.632A>C (p.His211Pro) rs2095906547
NM_003301.7(TRHR):c.242C>G (p.Pro81Arg) rs1586182837
NM_003301.7(TRHR):c.343_352delinsA (p.Ser115_Ala118delinsThr) rs1586182912
NM_003504.5(CDC45):c.203A>G (p.Gln68Arg) rs879255633
NM_003504.5(CDC45):c.226A>C (p.Asn76His) rs879255632
NM_003504.5(CDC45):c.893C>T (p.Ala298Val) rs146559223
NM_003672.4(CDC14A):c.934C>G (p.Arg312Gly) rs148737918
NM_003672.4(CDC14A):c.935G>A (p.Arg312Gln) rs369245990
NM_003676.4(DEGS1):c.320G>A (p.Trp107Ter) rs1382083552
NM_003676.4(DEGS1):c.337A>G (p.Asn113Asp) rs1280845604
NM_003676.4(DEGS1):c.839C>T (p.Ala280Val) rs1558211070
NM_003801.4(GPAA1):c.1165G>C (p.Ala389Pro) rs782768127
NM_003801.4(GPAA1):c.869T>C (p.Leu290Pro) rs1554764058
NM_003801.4(GPAA1):c.872T>C (p.Leu291Pro) rs1010907740
NM_004068.4(AP2M1):c.508C>T (p.Arg170Trp) rs1577059692
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg) rs781379291
NM_004184.4(WARS1):c.397C>T (p.Arg133Cys)
NM_004184.4(WARS1):c.770A>G (p.His257Arg) rs770003315
NM_004218.4(RAB11B):c.202G>A (p.Ala68Thr) rs1555690804
NM_004218.4(RAB11B):c.64G>A (p.Val22Met) rs1555690779
NM_004239.4(TRIP11):c.1228G>T (p.Asp410Tyr) rs1566863801
NM_004239.4(TRIP11):c.4534C>T (p.Gln1512Ter) rs780625551
NM_004239.4(TRIP11):c.5416A>G (p.Met1806Val) rs1566843321
NM_004333.6(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys) rs1562969219
NM_004444.5(EPHB4):c.2405A>G (p.Asp802Gly) rs776410552
NM_004481.5(GALNT2):c.311T>C (p.Phe104Ser) rs1663960324
NM_004481.5(GALNT2):c.629G>C (p.Arg210Pro) rs376870425
NM_004551.3(NDUFS3):c.434C>T (p.Thr145Ile) rs28939714
NM_004897.5(MINPP1):c.157T>G (p.Tyr53Asp) rs2131792567
NM_005205.4(COX6A2):c.117C>A (p.Ser39Arg) rs1597176845
NM_005337.5(NCKAP1L):c.1555G>C (p.Val519Leu) rs1956961224
NM_005337.5(NCKAP1L):c.773G>T (p.Arg258Leu) rs1956891911
NM_005609.4(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005611.4(RBL2):c.556C>T (p.Arg186Ter) rs2153138545
NM_005639.3(SYT1):c.1098C>A (p.Asp366Glu) rs1565962725
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr) rs1135402761
NM_005639.3(SYT1):c.1113C>G (p.Asn371Lys) rs144900171
NM_005639.3(SYT1):c.908T>A (p.Met303Lys) rs1565922388
NM_005639.3(SYT1):c.911A>G (p.Asp304Gly) rs1565922395
NM_005647.4(TBL1X):c.1015C>T (p.Arg339Ter) rs1601844140
NM_005956.4(MTHFD1):c.152T>C (p.Leu51Pro) rs1555336810
NM_005956.4(MTHFD1):c.806C>T (p.Thr269Ile) rs1555337681
NM_006088.6(TUBB4B):c.1171C>T (p.Arg391Cys) rs1554786802
NM_006088.6(TUBB4B):c.1172G>A (p.Arg391His) rs1554786803
NM_006390.4(IPO8):c.262G>A (p.Asp88Asn) rs1234764565
NM_006618.5(KDM5B):c.4109T>G (p.Leu1370Ter) rs1558478047
NM_006651.4(CPLX1):c.315C>A (p.Cys105Ter) rs1553851860
NM_006651.4(CPLX1):c.322G>T (p.Glu108Ter) rs1060499735
NM_006660.5(CLPX):c.893G>A (p.Gly298Asp) rs1555412542
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys) rs199474721
NM_006888.6(CALM1):c.161A>T (p.Asn54Ile) rs267607276
NM_006888.6(CALM1):c.268T>C (p.Phe90Leu) rs730882253
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter) rs1554062562
NM_007144.3(PCGF2):c.193C>T (p.Pro65Ser) rs1567941256
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
NM_007186.6(CEP250):c.3337A>T (p.Lys1113Ter) rs1568820302
NM_012140.5(SLC25A10):c.304A>T (p.Lys102Ter) rs1555703272
NM_012479.4(YWHAG):c.387C>G (p.Asp129Glu) rs1554616630
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_014003.4(DHX38):c.971G>A (p.Arg324Gln) rs766053952
NM_014055.4(IFT81):c.785T>G (p.Leu262Ter) rs576969206
NM_014165.4(NDUFAF4):c.7G>C (p.Ala3Pro) rs1554197721
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014727.3(KMT2B):c.1633C>T (p.Arg545Ter) rs1057519279
NM_014727.3(KMT2B):c.1690C>T (p.Arg564Ter) rs1057519283
NM_014727.3(KMT2B):c.2428C>T (p.Gln810Ter) rs1057519281
NM_014727.3(KMT2B):c.4545C>A (p.Tyr1515Ter) rs1057519284
NM_015178.3(RHOBTB2):c.1355C>G (p.Ala452Gly) rs1554504656
NM_015178.3(RHOBTB2):c.1453C>T (p.Arg485Cys) rs1563292586
NM_015178.3(RHOBTB2):c.1462A>G (p.Asn488Asp) rs1554504678
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp) rs1554504681
NM_015267.4(CUX2):c.1768G>A (p.Glu590Lys)
NM_015278.5(SASH1):c.1519T>G (p.Ser507Ala) rs1562489143
NM_015278.5(SASH1):c.1525G>A (p.Glu509Lys) rs1562489156
NM_015278.5(SASH1):c.1544T>C (p.Leu515Pro) rs1562489224
NM_015278.5(SASH1):c.1556G>A (p.Ser519Asn) rs1562489240
NM_015278.5(SASH1):c.1651T>C (p.Tyr551His) rs1562490566
NM_015278.5(SASH1):c.1651T>G (p.Tyr551Asp) rs1562490566
NM_015693.4(INTU):c.1063G>T (p.Glu355Ter) rs1037828930
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_016188.5(ACTL6B):c.1045G>A (p.Gly349Ser) rs955171017
NM_016188.5(ACTL6B):c.617T>C (p.Leu206Pro) rs1562848909
NM_016188.5(ACTL6B):c.724C>T (p.Gln242Ter) rs1562848568
NM_016188.5(ACTL6B):c.820C>T (p.Gln274Ter) rs1562848425
NM_016306.6(DNAJB11):c.161C>G (p.Pro54Arg) rs1553849919
NM_016306.6(DNAJB11):c.230T>C (p.Leu77Pro) rs1553850185
NM_017635.5(KMT5B):c.559C>T (p.Arg187Ter) rs114727354
NM_017646.6(TRIT1):c.22C>T (p.Arg8Ter) rs184469579
NM_017649.5(CNNM2):c.806C>G (p.Ser269Trp) rs794726858
NM_017752.3(TBC1D8B):c.872T>C (p.Phe291Ser) rs1602413491
NM_017951.5(SMPD4):c.82C>T (p.Gln28Ter) rs1573728266
NM_018230.3(NUP133):c.2922T>G (p.Ser974Arg) rs1558091788
NM_018230.3(NUP133):c.691C>G (p.Arg231Gly) rs1558108130
NM_020158.4(EXOSC5):c.302C>A (p.Thr101Lys) rs777418116
NM_020401.4(NUP107):c.2666A>G (p.Tyr889Cys) rs1565707103
NM_020702.5(MYORG):c.1321C>G (p.Arg441Gly) rs749427106
NM_020702.5(MYORG):c.1333C>T (p.Gln445Ter) rs1563981743
NM_020702.5(MYORG):c.337_348dup (p.Leu113_Arg116dup) rs775762093
NM_020702.5(MYORG):c.607C>T (p.Gln203Ter) rs1563982489
NM_020719.3(PRR12):c.5909T>C (p.Leu1970Pro) rs2122390232
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) rs587777695
NM_020944.3(GBA2):c.1780G>C (p.Asp594His) rs398123064
NM_020944.3(GBA2):c.2618G>A (p.Arg873His) rs398123015
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
NM_020964.3(EPG5):c.6084G>A (p.Trp2028Ter) rs1568107449
NM_023936.2(MRPS34):c.37G>A (p.Glu13Lys) rs1131692037
NM_024057.4(NUP37):c.916C>T (p.Arg306Ter) rs746341112
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter) rs1553193507
NM_024678.6(NARS2):c.1142A>G (p.Asn381Ser) rs1565216037
NM_024678.6(NARS2):c.637G>T (p.Val213Phe) rs756725793
NM_024678.6(NARS2):c.969T>A (p.Tyr323Ter) rs565224393
NM_024844.5(NUP85):c.1741G>C (p.Ala581Pro) rs1321552081
NM_025103.4(IFT74):c.853G>T (p.Glu285Ter) rs1056125920
NM_032193.4(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_033198.4(PIGS):c.101T>C (p.Leu34Pro) rs1567618413
NM_033198.4(PIGS):c.923A>G (p.Glu308Gly) rs1426262136
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_079420.3(MYL1):c.488T>G (p.Met163Arg) rs1259220084
NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter) rs121909275
NM_139343.3(BIN1):c.433C>T (p.Arg145Cys) rs1249621033
NM_139343.3(BIN1):c.461G>A (p.Arg154Gln) rs267606681
NM_144666.3(DNHD1):c.6498T>G (p.Tyr2166Ter) rs61729699
NM_148923.4(CYB5A):c.131A>T (p.His44Leu) rs1555688659
NM_148923.4(CYB5A):c.81G>A (p.Trp27Ter) rs1555691399
NM_152641.4(ARID2):c.1028T>A (p.Leu343Ter) rs796052242
NM_152641.4(ARID2):c.4318C>T (p.Gln1440Ter) rs772995852
NM_152713.5(STT3A):c.1214G>A (p.Arg405His) rs780062429
NM_152713.5(STT3A):c.137A>G (p.His46Arg) rs2135904246
NM_152713.5(STT3A):c.479G>A (p.Arg160Gln) rs2135921186
NM_153747.2(PIGC):c.566T>G (p.Leu189Trp) rs1553259614
NM_170606.3(KMT2C):c.1690A>T (p.Lys564Ter) rs1554580083
NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter) rs587777073
NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter) rs779659766
NM_170707.4(LMNA):c.1621C>T (p.Arg541Cys) rs56984562
NM_173628.4(DNAH17):c.[10496C>T;10784T>C]
NM_177924.5(ASAH1):c.107A>G (p.Tyr36Cys) rs137853595
NM_201589.4(MAFA):c.191C>T (p.Ser64Phe) rs1554635488
NM_212482.4(FN1):c.260G>T (p.Cys87Phe) rs1553669703
NM_212482.4(FN1):c.367T>C (p.Cys123Arg) rs1553667072
NM_212482.4(FN1):c.675C>G (p.Cys225Trp) rs1181638652
NM_212482.4(FN1):c.718T>G (p.Tyr240Asp) rs1553659131

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