ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago and "likely benign" from any submitter

Minimum review status of the submission from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago: Collection method of the submission from Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 311
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HGVS dbSNP gnomAD frequency
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_181078.3(IL21R):c.824G>A (p.Arg275Gln) rs52822694 0.00673
NM_014639.4(SKIC3):c.4187A>G (p.Asn1396Ser) rs116690692 0.00511
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_017999.5(RNF31):c.415G>A (p.Glu139Lys) rs45466595 0.00376
NM_152468.5(TMC8):c.1982C>T (p.Pro661Leu) rs139972217 0.00364
NM_052813.5(CARD9):c.809A>T (p.Glu270Val) rs114895119 0.00356
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_006846.4(SPINK5):c.1964G>A (p.Gly655Asp) rs142227576 0.00313
NM_000742.4(CHRNA2):c.1434C>A (p.Asp478Glu) rs56344740 0.00307
NM_001036.6(RYR3):c.9254C>G (p.Pro3085Arg) rs61996335 0.00307
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00307
NM_017999.5(RNF31):c.1865A>T (p.Gln622Leu) rs149481717 0.00307
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly) rs181639116 0.00297
NM_000081.4(LYST):c.7870C>T (p.Arg2624Trp) rs150306354 0.00280
NM_182919.4(TICAM1):c.1702G>A (p.Ala568Thr) rs143679494 0.00269
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
NM_007315.4(STAT1):c.796G>A (p.Val266Ile) rs41473544 0.00251
NM_000101.4(CYBA):c.226G>A (p.Val76Met) rs149344911 0.00250
NM_020964.3(EPG5):c.2998A>G (p.Met1000Val) rs144334723 0.00245
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_002838.5(PTPRC):c.1568A>T (p.Glu523Val) rs116464756 0.00241
NM_005534.4(IFNGR2):c.708A>T (p.Glu236Asp) rs121913212 0.00235
NM_014339.7(IL17RA):c.958T>C (p.Trp320Arg) rs140221307 0.00230
NM_012092.4(ICOS):c.451G>C (p.Val151Leu) rs76778263 0.00226
NM_014339.7(IL17RA):c.152C>T (p.Thr51Met) rs143008696 0.00223
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_003721.4(RFXANK):c.445G>A (p.Asp149Asn) rs115220304 0.00216
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520 0.00215
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) rs201036248 0.00214
NM_003664.5(AP3B1):c.2915A>G (p.Asn972Ser) rs139968311 0.00213
NM_020070.4(IGLL1):c.350C>T (p.Thr117Ile) rs143780139 0.00213
NM_000593.6(TAP1):c.1103T>C (p.Ile368Thr) rs55767910 0.00211
NM_002187.3(IL12B):c.749G>A (p.Arg250Gln) rs74644143 0.00203
NM_203447.4(DOCK8):c.380G>A (p.Arg127His) rs150742426 0.00196
NM_001036.6(RYR3):c.7490A>G (p.Asn2497Ser) rs61996331 0.00195
NM_080424.4(SP110):c.584-10C>G rs148591984 0.00188
NM_000572.3(IL10):c.43G>A (p.Gly15Arg) rs145922845 0.00186
NM_006892.4(DNMT3B):c.608C>T (p.Pro203Leu) rs147945634 0.00185
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00185
NM_145207.3(AFG2A):c.896G>T (p.Gly299Val) rs75871497 0.00181
NM_001879.6(MASP1):c.1442-5C>G rs138989954 0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_003803.4(MYOM1):c.3539A>G (p.Asp1180Gly) rs188319622 0.00176
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 0.00174
NM_001025603.2(RFX5):c.233+4G>C rs2233846 0.00173
NM_014339.7(IL17RA):c.1493C>T (p.Thr498Ile) rs41529049 0.00173
NM_147686.4(TRAF3IP2):c.819C>G (p.His273Gln) rs144405088 0.00172
NM_000081.4(LYST):c.3683A>G (p.Asn1228Ser) rs145553827 0.00171
NM_000433.4(NCF2):c.1081A>T (p.Thr361Ser) rs147744729 0.00169
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_024589.3(ROGDI):c.822+8C>T rs376868221 0.00168
NM_001036.6(RYR3):c.10698G>A (p.Thr3566=) rs200309704 0.00163
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_152468.5(TMC8):c.1364G>A (p.Arg455Gln) rs151076155 0.00158
NM_003721.4(RFXANK):c.95C>T (p.Ala32Val) rs114064359 0.00156
NM_002187.3(IL12B):c.283G>A (p.Glu95Lys) rs56287471 0.00155
NM_199242.3(UNC13D):c.227C>T (p.Thr76Met) rs78028658 0.00153
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280 0.00152
NM_001905.4(CTPS1):c.1276C>G (p.Pro426Ala) rs139322260 0.00151
NM_014141.6(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565 0.00151
NM_001318789.2(TLR2):c.271A>G (p.Ile91Val) rs116232047 0.00149
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115 0.00149
NM_000081.4(LYST):c.6710A>C (p.Gln2237Pro) rs138443479 0.00148
NM_003036.4(SKI):c.1196C>T (p.Ala399Val) rs141862996 0.00148
NM_002476.2(MYL4):c.167T>C (p.Phe56Ser) rs144870368 0.00147
NM_002185.5(IL7R):c.778G>A (p.Ala260Thr) rs147153824 0.00144
NM_152564.5(VPS13B):c.3116T>C (p.Met1039Thr) rs140015545 0.00144
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp) rs145933612 0.00143
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_139125.4(MASP1):c.674A>G (p.Asn225Ser) rs145045341 0.00142
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00138
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_001370466.1(NOD2):c.1970G>A (p.Arg657Gln) rs114664276 0.00131
NM_001558.4(IL10RA):c.698T>G (p.Val233Gly) rs138929400 0.00130
NM_001943.5(DSG2):c.2368C>T (p.His790Tyr) rs114544564 0.00130
NM_017553.3(INO80):c.3842G>A (p.Arg1281Gln) rs141223506 0.00130
NM_031471.6(FERMT3):c.331C>T (p.Arg111Cys) rs140328152 0.00129
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg) rs141518457 0.00123
NM_014140.4(SMARCAL1):c.1851+5G>A rs2066514 0.00122
NM_000211.5(ITGB2):c.311C>T (p.Thr104Met) rs138682103 0.00121
NM_001322934.2(NFKB2):c.2072-3C>T rs201550645 0.00121
NM_005356.5(LCK):c.601G>A (p.Gly201Ser) rs11567841 0.00121
NM_006282.5(STK4):c.1057A>G (p.Thr353Ala) rs140089638 0.00119
NM_002838.5(PTPRC):c.782G>T (p.Gly261Val) rs142941257 0.00116
NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn) rs151286835 0.00113
NM_001375834.1(WIPF1):c.1037C>T (p.Pro346Leu) rs149434153 0.00113
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu) rs144455277 0.00113
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_001737.5(C9):c.1451T>A (p.Met484Lys) rs145969667 0.00109
NM_005051.3(QARS1):c.2123C>T (p.Pro708Leu) rs142327602 0.00108
NM_001036.6(RYR3):c.6698G>A (p.Arg2233Gln) rs199648816 0.00104
NM_001366385.1(CARD14):c.449T>G (p.Leu150Arg) rs146214639 0.00104
NM_139057.4(ADAMTS17):c.3044C>T (p.Ser1015Leu) rs143891379 0.00100
NM_021167.5(GATAD1):c.96T>G (p.His32Gln) rs532003876 0.00099
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_003327.4(TNFRSF4):c.494T>C (p.Ile165Thr) rs150407012 0.00090
NM_020458.4(TTC7A):c.2484G>C (p.Gln828His) rs151032299 0.00088
NM_000733.4(CD3E):c.470C>T (p.Ala157Val) rs140639753 0.00083
NM_006302.3(MOGS):c.1851T>A (p.His617Gln) rs199939051 0.00079
NM_022168.4(IFIH1):c.478A>G (p.Asn160Asp) rs74162075 0.00079
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197 0.00078
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr) rs113631419 0.00077
NM_020458.4(TTC7A):c.1633G>A (p.Val545Ile) rs6755258 0.00076
NM_022168.4(IFIH1):c.2524G>A (p.Glu842Lys) rs79324540 0.00076
NM_152468.5(TMC8):c.1168G>A (p.Val390Ile) rs150546646 0.00073
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_001243133.2(NLRP3):c.3048A>C (p.Leu1016Phe) rs143548979 0.00068
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr) rs772521985 0.00067
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_001378454.1(ALMS1):c.10892G>A (p.Arg3631His) rs142558799 0.00066
NM_006610.4(MASP2):c.352C>T (p.Arg118Cys) rs147270785 0.00066
NM_001322934.2(NFKB2):c.1736G>A (p.Arg579His) rs200227171 0.00065
NM_006393.3(NEBL):c.2080C>T (p.Arg694Trp) rs114875104 0.00064
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys) rs139833874 0.00061
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg) rs201635205 0.00061
NM_172245.4(CSF2RA):c.191A>G (p.Asp64Gly) rs150743648 0.00059
NM_000302.4(PLOD1):c.1927G>A (p.Val643Ile) rs149425237 0.00057
NM_022114.4(PRDM16):c.2449G>A (p.Gly817Ser) rs375308440 0.00057
NM_053025.4(MYLK):c.3898G>A (p.Ala1300Thr) rs149530842 0.00055
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp) rs104895427 0.00051
NM_000246.4(CIITA):c.931A>G (p.Met311Val) rs140139362 0.00050
NM_001005242.3(PKP2):c.1379-2109G>A rs139159464 0.00050
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639 0.00049
NM_002838.5(PTPRC):c.3073-6A>G rs191867796 0.00049
NM_000246.4(CIITA):c.2651G>A (p.Arg884His) rs374443915 0.00048
NM_006904.7(PRKDC):c.6901C>G (p.Gln2301Glu) rs376211703 0.00048
NM_005076.5(CNTN2):c.1460C>T (p.Thr487Ile) rs116647440 0.00047
NM_004415.4(DSP):c.2683T>C (p.Tyr895His) rs375891215 0.00043
NM_001005242.3(PKP2):c.184C>A (p.Gln62Lys) rs199601548 0.00041
NM_006949.4(STXBP2):c.568C>T (p.Arg190Cys) rs370053399 0.00041
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_004415.4(DSP):c.2288A>G (p.Tyr763Cys) rs113967308 0.00034
NM_000639.3(FASLG):c.280T>G (p.Leu94Val) rs56302117 0.00033
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser) rs113696032 0.00031
NM_002474.3(MYH11):c.5528C>T (p.Ser1843Leu) rs148621523 0.00031
NM_005546.4(ITK):c.631G>C (p.Val211Leu) rs142038079 0.00031
NM_014141.6(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994 0.00030
NM_000071.3(CBS):c.1479G>A (p.Thr493=) rs143225442 0.00029
NM_000744.7(CHRNA4):c.274G>C (p.Glu92Gln) rs146651027 0.00029
NM_199242.3(UNC13D):c.972C>T (p.Asp324=) rs368990813 0.00029
NM_001737.5(C9):c.1585G>A (p.Ala529Thr) rs137891079 0.00028
NM_001040142.2(SCN2A):c.1402_1404del (p.Ser468del) rs780584405 0.00027
NM_001375834.1(WIPF1):c.1380C>T (p.Ser460=) rs753915750 0.00027
NM_005535.3(IL12RB1):c.1791+9G>A rs182660189 0.00026
NM_181523.3(PIK3R1):c.917-1513G>T rs144312303 0.00026
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00025
NM_152564.5(VPS13B):c.3204A>G (p.Thr1068=) rs140090983 0.00025
NM_001127222.2(CACNA1A):c.3227C>T (p.Ala1076Val) rs199512932 0.00024
NM_003803.4(MYOM1):c.3548G>A (p.Arg1183Gln) rs147050513 0.00024
NM_005101.4(ISG15):c.296G>A (p.Arg99Gln) rs374404353 0.00023
NM_183235.3(RAB27A):c.560G>A (p.Arg187Gln) rs182849552 0.00022
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737 0.00021
NM_001458.5(FLNC):c.3938G>A (p.Arg1313Gln) rs199804244 0.00019
NM_004006.3(DMD):c.3379C>G (p.Leu1127Val) rs141887693 0.00019
NM_000057.4(BLM):c.807C>T (p.Ser269=) rs147850738 0.00018
NM_000138.5(FBN1):c.902G>T (p.Gly301Val) rs142888621 0.00018
NM_004370.6(COL12A1):c.8336G>A (p.Arg2779His) rs190917891 0.00017
NM_024589.3(ROGDI):c.532-4G>A rs3747610 0.00017
NM_000536.4(RAG2):c.367C>T (p.Arg123Cys) rs147319483 0.00016
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr) rs373522639 0.00016
NM_006904.7(PRKDC):c.3898A>G (p.Ser1300Gly) rs368949953 0.00016
NM_006904.7(PRKDC):c.5572-4G>A rs367584015 0.00016
NM_000026.4(ADSL):c.357+6C>T rs181628906 0.00015
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) rs756942664 0.00015
NM_020822.3(KCNT1):c.2595-9C>T rs369966222 0.00015
NM_000302.4(PLOD1):c.1321C>T (p.Arg441Trp) rs11553676 0.00014
NM_000628.5(IL10RB):c.954G>A (p.Pro318=) rs374161818 0.00014
NM_001165963.4(SCN1A):c.5217C>T (p.Pro1739=) rs149315236 0.00014
NM_002185.5(IL7R):c.1096T>C (p.Ser366Pro) rs201671392 0.00014
NM_152564.5(VPS13B):c.3083-8G>A rs201973611 0.00014
NM_000393.5(COL5A2):c.2970G>C (p.Gly990=) rs933589600 0.00013
NM_003036.4(SKI):c.640A>G (p.Ser214Gly) rs139179843 0.00013
NM_000536.4(RAG2):c.909G>T (p.Glu303Asp) rs141025671 0.00012
NM_015192.4(PLCB1):c.28G>T (p.Ala10Ser) rs150241349 0.00012
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys) rs376103033 0.00011
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756 0.00011
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val) rs199593058 0.00011
NM_006254.4(PRKCD):c.1260+7G>A rs374605708 0.00011
NM_001364905.1(LRBA):c.6046+7G>T rs376126419 0.00010
NM_001370466.1(NOD2):c.2099C>T (p.Pro700Leu) rs104895489 0.00010
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_017668.3(NDE1):c.*164A>C rs370252949 0.00010
NM_000081.4(LYST):c.281C>T (p.Thr94Ile) rs777389303 0.00009
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329 0.00009
NM_000642.3(AGL):c.2930G>A (p.Arg977Gln) rs147977213 0.00009
NM_001127198.5(TMC6):c.633+8C>T rs369450669 0.00008
NM_001458.5(FLNC):c.5216C>T (p.Pro1739Leu) rs745650222 0.00008
NM_003482.4(KMT2D):c.11849A>G (p.Gln3950Arg) rs751367935 0.00008
NM_005051.3(QARS1):c.395G>C (p.Arg132Thr) rs530494890 0.00008
NM_006516.4(SLC2A1):c.1395C>T (p.Ser465=) rs75852730 0.00008
NM_000628.5(IL10RB):c.804+8G>A rs112943706 0.00007
NM_001972.4(ELANE):c.524C>T (p.Thr175Met) rs193141883 0.00007
NM_002163.4(IRF8):c.988+10G>A rs371410129 0.00007
NM_005076.5(CNTN2):c.1216G>A (p.Ala406Thr) rs752262787 0.00007
NM_005477.3(HCN4):c.1243G>A (p.Val415Met) rs201978086 0.00007
NM_000270.4(PNP):c.645C>T (p.Asp215=) rs369193020 0.00006
NM_000744.7(CHRNA4):c.138C>T (p.Ser46=) rs200705061 0.00006
NM_001122681.2(SH3BP2):c.34A>G (p.Met12Val) rs148117486 0.00006
NM_002185.5(IL7R):c.1007A>G (p.Glu336Gly) rs770237630 0.00006
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350 0.00006
NM_003190.5(TAPBP):c.591G>A (p.Pro197=) rs200497341 0.00006
NM_005207.4(CRKL):c.840C>T (p.Asn280=) rs769606385 0.00006
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00006
NM_018026.4(PACS1):c.385G>A (p.Val129Ile) rs115491121 0.00006
NM_022168.4(IFIH1):c.1243C>A (p.Gln415Lys) rs575678322 0.00006
NM_053025.4(MYLK):c.2627G>A (p.Arg876His) rs537224715 0.00006
NM_138425.4(C12orf57):c.363C>T (p.Gly121=) rs782694267 0.00006
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=) rs745743884 0.00005
NM_000383.4(AIRE):c.156G>A (p.Lys52=) rs144396624 0.00005
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys) rs778519094 0.00005
NM_152564.5(VPS13B):c.1652-9T>A rs375615155 0.00005
NM_001322934.2(NFKB2):c.1938G>A (p.Glu646=) rs563687760 0.00004
NM_001370466.1(NOD2):c.2631G>A (p.Leu877=) rs142559533 0.00004
NM_001458.5(FLNC):c.2450T>C (p.Ile817Thr) rs200653747 0.00004
NM_001458.5(FLNC):c.7229G>A (p.Arg2410His) rs558239439 0.00004
NM_014795.4(ZEB2):c.332-6C>T rs730881186 0.00004
NM_015443.4(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483 0.00004
NM_022089.4(ATP13A2):c.2640C>T (p.Ala880=) rs567287489 0.00004
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) rs768674400 0.00004
NM_033118.4(MYLK2):c.558G>A (p.Thr186=) rs140695242 0.00004
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys) rs142459706 0.00003
NM_001040142.2(SCN2A):c.4260G>T (p.Thr1420=) rs138241682 0.00003
NM_001110556.2(FLNA):c.4517C>T (p.Thr1506Ile) rs797045579 0.00003
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=) rs201481698 0.00003
NM_001378120.1(MBD5):c.884C>G (p.Thr295Ser) rs368339420 0.00003
NM_001378120.1(MBD5):c.961A>G (p.Met321Val) rs369869865 0.00003
NM_002294.3(LAMP2):c.640C>A (p.Pro214Thr) rs776101722 0.00003
NM_003482.4(KMT2D):c.5285G>C (p.Ser1762Thr) rs777604931 0.00003
NM_007074.4(CORO1A):c.451+7C>T rs761205413 0.00003
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649 0.00003
NM_130839.5(UBE3A):c.582A>G (p.Ala194=) rs764101035 0.00003
NM_000093.5(COL5A1):c.5371-8T>C rs1352923765 0.00002
NM_000215.4(JAK3):c.114C>A (p.Pro38=) rs1448668382 0.00002
NM_001110556.2(FLNA):c.2974A>G (p.Thr992Ala) rs782445995 0.00002
NM_004415.4(DSP):c.6397G>A (p.Gly2133Ser) rs372393122 0.00002
NM_006254.4(PRKCD):c.889-9C>T rs782612523 0.00002
NM_006516.4(SLC2A1):c.903G>A (p.Ala301=) rs776461617 0.00002
NM_006904.7(PRKDC):c.1713C>T (p.Ser571=) rs373088662 0.00002
NM_022168.4(IFIH1):c.1701G>A (p.Met567Ile) rs765060493 0.00002
NM_138387.4(G6PC3):c.201C>T (p.Leu67=) rs375273894 0.00002
NM_152564.5(VPS13B):c.7476A>G (p.Pro2492=) rs913138802 0.00002
NM_000057.4(BLM):c.3267A>G (p.Gln1089=) rs1396484162 0.00001
NM_000090.4(COL3A1):c.2607+10G>A rs367789349 0.00001
NM_000138.5(FBN1):c.6845G>A (p.Arg2282Gln) rs759696323 0.00001
NM_000138.5(FBN1):c.8189G>A (p.Arg2730Gln) rs200231626 0.00001
NM_000431.4(MVK):c.1116C>T (p.Ile372=) rs368066027 0.00001
NM_000834.5(GRIN2B):c.2011-8C>G rs774971411 0.00001
NM_000834.5(GRIN2B):c.3981G>A (p.Lys1327=) rs201670483 0.00001
NM_001134363.3(RBM20):c.2410G>A (p.Glu804Lys) rs957248353 0.00001
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00001
NM_003036.4(SKI):c.2058C>T (p.Ala686=) rs1171554207 0.00001
NM_003036.4(SKI):c.2092C>T (p.Leu698=) rs766929334 0.00001
NM_003664.5(AP3B1):c.2890T>C (p.Leu964=) rs750377910 0.00001
NM_004370.6(COL12A1):c.7024G>A (p.Val2342Ile) rs745852751 0.00001
NM_004415.4(DSP):c.2689G>C (p.Ala897Pro) rs1008407158 0.00001
NM_005045.4(RELN):c.5300G>A (p.Gly1767Glu) rs766384576 0.00001
NM_005428.4(VAV1):c.381-8C>A rs780032946 0.00001
NM_006516.4(SLC2A1):c.192C>G (p.Leu64=) rs762583668 0.00001
NM_006892.4(DNMT3B):c.1490+8C>G rs746731138 0.00001
NM_006904.7(PRKDC):c.7812G>A (p.Pro2604=) rs763035246 0.00001
NM_007327.4(GRIN1):c.957G>A (p.Pro319=) rs766888803 0.00001
NM_015599.3(PGM3):c.219A>G (p.Val73=) rs752657453 0.00001
NM_016097.5(IER3IP1):c.92-10C>T rs772039958 0.00001
NM_022168.4(IFIH1):c.2733T>C (p.Ser911=) rs767453829 0.00001
NM_052813.5(CARD9):c.185-5C>T rs760533705 0.00001
NM_052813.5(CARD9):c.636G>A (p.Gln212=) rs759411705 0.00001
NM_206937.2(LIG4):c.1242A>C (p.Val414=) rs150828164 0.00001
NM_000093.5(COL5A1):c.2555A>G (p.Asn852Ser) rs148146480
NM_000138.5(FBN1):c.6164-5T>C rs2043085940
NM_000138.5(FBN1):c.69T>C (p.His23=) rs2140787712
NM_000170.3(GLDC):c.2569+8T>G rs894742250
NM_000215.4(JAK3):c.938G>A (p.Gly313Glu) rs200319694
NM_000251.3(MSH2):c.403C>G (p.Leu135Val) rs193096019
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001184880.2(PCDH19):c.528G>T (p.Leu176=) rs971048873
NM_001283009.2(RTEL1):c.3343+8G>A rs768036242
NM_001283009.2(RTEL1):c.732G>A (p.Gly244=) rs919917378
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001378454.1(ALMS1):c.5453G>T (p.Arg1818Leu) rs200925575
NM_001458.5(FLNC):c.3055G>T (p.Gly1019Cys) rs200864007
NM_001734.5(C1S):c.1198G>C (p.Glu400Gln) rs150549869
NM_002838.5(PTPRC):c.2142+7A>G rs764731559
NM_003183.6(ADAM17):c.1545-7_1545-5del rs372560151
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003664.5(AP3B1):c.2769A>C (p.Lys923Asn) rs201179527
NM_003793.4(CTSF):c.160C>A (p.Arg54=) rs776443007
NM_004415.4(DSP):c.2932A>G (p.Ile978Val) rs780823789
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del) rs762015967
NM_005076.5(CNTN2):c.1975+10A>G rs773175563
NM_005249.5(FOXG1):c.1123G>A (p.Ala375Thr) rs1594384127
NM_013254.4(TBK1):c.813-7A>C rs376075252
NM_014639.4(SKIC3):c.1783C>G (p.Pro595Ala) rs751343448
NM_014639.4(SKIC3):c.4310G>T (p.Ser1437Ile) rs755895621
NM_014795.4(ZEB2):c.2226A>T (p.Pro742=) rs540345773
NM_018389.5(SLC35C1):c.402C>T (p.Cys134=) rs955606062
NM_020822.3(KCNT1):c.3174C>T (p.Ala1058=) rs2131577612
NM_020964.3(EPG5):c.6166C>T (p.Arg2056Trp) rs116076204
NM_052813.5(CARD9):c.1312-13CT[2] rs770532797
NM_052813.5(CARD9):c.1434+1G>C rs141992399
NM_053025.4(MYLK):c.3832-8G>C rs202218458
NM_144687.4(NLRP12):c.2830C>A (p.Arg944=) rs104895570
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_173354.5(SIK1):c.1538C>T (p.Ala513Val) rs200402559
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_201596.3(CACNB2):c.1688G>A (p.Arg563Gln) rs766377211

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