ClinVar Miner

List of variants reported as likely pathogenic by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 632
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HGVS dbSNP gnomAD frequency
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682 0.00304
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe) rs72653756 0.00214
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616 0.00150
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245 0.00116
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054 0.00096
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152 0.00092
NM_139027.6(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218 0.00088
NM_000275.3(OCA2):c.1103C>T (p.Ala368Val) rs61745150 0.00086
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212 0.00077
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163 0.00071
NM_145199.3(LIPT1):c.875C>G (p.Ser292Ter) rs137891647 0.00047
NM_020320.5(RARS2):c.773G>A (p.Arg258His) rs145297855 0.00044
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145 0.00044
NM_019616.4(F7):c.995C>T (p.Ala332Val) rs36209567 0.00038
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg) rs140076803 0.00036
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
NM_001383.6(DPH1):c.359T>C (p.Leu120Pro) rs200530055 0.00029
NM_004482.4(GALNT3):c.16C>T (p.Arg6Ter) rs376963628 0.00029
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His) rs146292819 0.00029
NM_001930.4(DHPS):c.1014+1G>A rs142633494 0.00028
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp) rs141949212 0.00021
NM_002016.2(FLG):c.94G>T (p.Glu32Ter) rs114733570 0.00021
NM_000372.5(TYR):c.823G>T (p.Val275Phe) rs104894314 0.00019
NM_003235.5(TG):c.4378G>A (p.Val1460Ile) rs199615848 0.00019
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767 0.00016
NM_001085487.3(MYSM1):c.219-1G>A rs201886018 0.00016
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00014
NM_004260.4(RECQL4):c.1048_1049del (p.Arg350fs) rs746636748 0.00013
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg) rs61752334 0.00011
NM_022787.4(NMNAT1):c.293T>G (p.Val98Gly) rs771336246 0.00011
NM_013328.4(PYCR2):c.676C>T (p.Gln226Ter) rs201784173 0.00010
NM_000257.4(MYH7):c.2606G>A (p.Arg869His) rs202141173 0.00009
NM_000429.3(MAT1A):c.527T>A (p.Leu176Gln) rs769846362 0.00009
NM_001983.4(ERCC1):c.466C>T (p.Arg156Trp) rs757369063 0.00007
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058 0.00006
NM_013296.5(GPSM2):c.1661C>A (p.Ser554Ter) rs145191476 0.00006
NM_015166.4(MLC1):c.274C>T (p.Pro92Ser) rs121908345 0.00006
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg) rs147391618 0.00006
NM_152564.5(VPS13B):c.6727G>T (p.Glu2243Ter) rs146960401 0.00006
NM_000031.6(ALAD):c.397G>A (p.Gly133Arg) rs121912980 0.00005
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu) rs80338859 0.00005
NM_017807.4(OSGEP):c.838C>T (p.Arg280Cys) rs374322839 0.00005
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu) rs368505753 0.00004
NM_000550.3(TYRP1):c.859C>T (p.Arg287Ter) rs1435975707 0.00004
NM_001098672.2(HEPHL1):c.2857C>T (p.Arg953Ter) rs542337286 0.00004
NM_001195518.2(MICU1):c.161+1G>A rs375502236 0.00004
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter) rs780960812 0.00004
NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys) rs775426647 0.00004
NM_004937.3(CTNS):c.473T>C (p.Leu158Pro) rs113994206 0.00004
NM_005912.3(MC4R):c.896C>A (p.Pro299His) rs52804924 0.00004
NM_012144.4(DNAI1):c.1212T>G (p.Tyr404Ter) rs926347298 0.00004
NM_016138.5(COQ7):c.319C>T (p.Arg107Trp) rs769570290 0.00004
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter) rs144495588 0.00004
NM_025216.3(WNT10A):c.391G>A (p.Ala131Thr) rs372993798 0.00004
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter) rs200293302 0.00004
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter) rs202086317 0.00004
NM_207122.2(EXT2):c.1945C>T (p.Arg649Ter) rs765648513 0.00004
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys) rs771874163 0.00003
NM_000083.3(CLCN1):c.1283T>C (p.Phe428Ser) rs774843953 0.00003
NM_000171.4(GLRA1):c.1259G>A (p.Arg420His) rs281864919 0.00003
NM_001100.4(ACTA1):c.782A>T (p.Glu261Val) rs121909523 0.00003
NM_002340.6(LSS):c.1194+5G>A rs748758448 0.00003
NM_002834.5(PTPN11):c.781C>T (p.Leu261Phe) rs397507525 0.00003
NM_012123.4(MTO1):c.1282G>A (p.Ala428Thr) rs143747297 0.00003
NM_014804.3(KIAA0753):c.2656C>T (p.Arg886Ter) rs370840009 0.00003
NM_017807.4(OSGEP):c.319G>A (p.Val107Met) rs140583554 0.00003
NM_024079.5(ALG8):c.535C>T (p.Arg179Ter) rs762811727 0.00003
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter) rs770311534 0.00002
NM_000090.4(COL3A1):c.1996G>A (p.Gly666Ser) rs755528878 0.00002
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) rs1278340100 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000271.5(NPC1):c.3289G>A (p.Asp1097Asn) rs758829443 0.00002
NM_000426.4(LAMA2):c.5562+5G>C rs771046502 0.00002
NM_000426.4(LAMA2):c.6429+1G>T rs1262029350 0.00002
NM_001244189.2(KIAA0586):c.9+1G>A rs1490434047 0.00002
NM_001271208.2(NEB):c.17276del (p.Gln5759fs) rs1346554177 0.00002
NM_001378615.1(CC2D2A):c.3325C>T (p.Arg1109Ter) rs760676442 0.00002
NM_002693.3(POLG):c.1808T>C (p.Met603Thr) rs367610201 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_005188.4(CBL):c.1259G>A (p.Arg420Gln) rs267606708 0.00002
NM_007059.4(KPTN):c.863G>A (p.Arg288Gln) rs772378754 0.00002
NM_016356.5(DCDC2):c.942del (p.Gly315fs) rs1554144869 0.00002
NM_033550.4(TP53RK):c.727C>T (p.Arg243Cys) rs553547069 0.00002
NM_053274.3(GLMN):c.1141-1G>A rs1375310236 0.00002
NM_153676.4(USH1C):c.310G>C (p.Gly104Arg) rs1387867750 0.00002
NM_206933.4(USH2A):c.5857+2T>C rs397518022 0.00002
NM_212552.3(BOLA3):c.200T>A (p.Ile67Asn) rs550855238 0.00002
NM_000047.3(ARSL):c.109C>T (p.Arg37Ter) rs754885040 0.00001
NM_000083.3(CLCN1):c.1243G>C (p.Ala415Pro) rs1023099235 0.00001
NM_000153.4(GALC):c.583-6T>A rs398123176 0.00001
NM_000218.3(KCNQ1):c.776G>A (p.Arg259His) rs199472720 0.00001
NM_000255.4(MMUT):c.1846C>T (p.Arg616Cys) rs765284825 0.00001
NM_000297.4(PKD2):c.1319+1G>A rs1131692280 0.00001
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271 0.00001
NM_000527.5(LDLR):c.259T>G (p.Trp87Gly) rs121908025 0.00001
NM_001005273.3(CHD3):c.5007_5008del (p.Asp1671fs) rs967826828 0.00001
NM_001041.4(SI):c.3266G>A (p.Trp1089Ter) rs774109373 0.00001
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr) rs199474728 0.00001
NM_001142416.2(AIMP1):c.115C>T (p.Gln39Ter) rs724159969 0.00001
NM_001164508.2(NEB):c.1493A>G (p.Asp498Gly) rs1255744452 0.00001
NM_001378615.1(CC2D2A):c.1558C>T (p.Arg520Ter) rs781252161 0.00001
NM_001510.4(GRID2):c.1913G>A (p.Trp638Ter) rs1470494014 0.00001
NM_001999.4(FBN2):c.3982G>T (p.Glu1328Ter) rs1750792951 0.00001
NM_002860.4(ALDH18A1):c.88+1G>A rs556267618 0.00001
NM_003002.4(SDHD):c.242C>T (p.Pro81Leu) rs80338844 0.00001
NM_004187.5(KDM5C):c.322C>T (p.Arg108Trp) rs146232504 0.00001
NM_004446.3(EPRS1):c.3832C>T (p.Arg1278Ter) rs765537459 0.00001
NM_004958.4(MTOR):c.2581T>C (p.Tyr861His) rs1023010218 0.00001
NM_006348.5(COG5):c.1381C>T (p.Arg461Ter) rs148069173 0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928 0.00001
NM_007325.5(GRIA3):c.1348C>T (p.Arg450Ter) rs183018401 0.00001
NM_014712.3(SETD1A):c.2737C>T (p.Arg913Cys) rs2056165149 0.00001
NM_015338.6(ASXL1):c.1015C>T (p.Gln339Ter) rs2011567269 0.00001
NM_016035.5(COQ4):c.300-2A>G rs141303335 0.00001
NM_017807.4(OSGEP):c.556C>T (p.Arg186Ter) rs140696201 0.00001
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter) rs199422194 0.00001
NM_018489.3(ASH1L):c.5269C>T (p.Arg1757Ter) rs1662320308 0.00001
NM_018941.4(CLN8):c.610C>T (p.Arg204Cys) rs104894060 0.00001
NM_020812.4(DOCK6):c.4203+2T>C rs1169546944 0.00001
NM_022124.6(CDH23):c.3016G>A (p.Glu1006Lys) rs745571683 0.00001
NM_022552.5(DNMT3A):c.875T>C (p.Ile292Thr) rs777306476 0.00001
NM_022786.3(ARV1):c.175-2A>G rs1294383261 0.00001
NM_024649.5(BBS1):c.416G>A (p.Trp139Ter) rs878855095 0.00001
NM_025077.4(TOE1):c.544C>T (p.Arg182Ter) rs752569685 0.00001
NM_152564.5(VPS13B):c.11758C>T (p.Arg3920Ter) rs933746831 0.00001
NM_198525.3(KIF7):c.1561-1G>A rs763238645 0.00001
NM_000019.4(ACAT1):c.730+2T>C rs398123096
NM_000020.3(ACVRL1):c.853C>T (p.Leu285Phe) rs1085307410
NM_000033.4(ABCD1):c.1500dup (p.Met501fs)
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs) rs864622290
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer) rs587782554
NM_000053.4(ATP7B):c.524_525del (p.Lys175fs) rs558037268
NM_000053.4(ATP7B):c.778dup (p.Gln260fs) rs786204570
NM_000059.4(BRCA2):c.1002_1003dup (p.Glu335fs)
NM_000062.3(SERPING1):c.979_980delinsGTGCC (p.Ser327delinsValPro) rs1945411643
NM_000071.3(CBS):c.429C>G (p.Ile143Met) rs370167302
NM_000085.5(CLCNKB):c.376del (p.Glu125_Val126insTer) rs2023146719
NM_000088.4(COL1A1):c.3871_3883delinsGT (p.Cys1291fs) rs2144534853
NM_000088.4(COL1A1):c.958-1G>A rs72645352
NM_000092.5(COL4A4):c.4082-1G>T rs1559438651
NM_000092.5(COL4A4):c.4349_4366del (p.Ile1450_Pro1455del) rs2149745228
NM_000133.4(F9):c.950C>T (p.Ala317Val) rs2148367725
NM_000138.5(FBN1):c.6315G>T (p.Glu2105Asp)
NM_000138.5(FBN1):c.6801C>A (p.Asn2267Lys) rs886051245
NM_000141.5(FGFR2):c.314A>G (p.Tyr105Cys) rs1434545235
NM_000165.5(GJA1):c.226C>A (p.Arg76Ser) rs267606845
NM_000170.3(GLDC):c.2259C>G (p.His753Gln) rs2129719894
NM_000170.3(GLDC):c.989A>G (p.His330Arg) rs1267445922
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly) rs2089304297
NM_000208.4(INSR):c.1573C>T (p.Arg525Ter) rs1599937180
NM_000214.3(JAG1):c.235C>T (p.Leu79Phe)
NM_000218.3(KCNQ1):c.532G>A (p.Ala178Thr) rs120074177
NM_000238.4(KCNH2):c.2987A>T (p.Asn996Ile) rs199473018
NM_000263.4(NAGLU):c.30_31insATCATATT (p.Gly11fs) rs2092905757
NM_000271.5(NPC1):c.67del (p.Gln23fs) rs886043131
NM_000277.3(PAH):c.842C>A (p.Pro281His) rs5030851
NM_000303.3(PMM2):c.26G>T (p.Cys9Phe)
NM_000307.5(POU3F4):c.119dup (p.Ser40fs)
NM_000335.5(SCN5A):c.703+1G>C rs2125914209
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter) rs1382448285
NM_000369.5(TSHR):c.1207G>A (p.Asp403Asn)
NM_000384.3(APOB):c.11040T>G (p.Tyr3680Ter) rs1663118269
NM_000384.3(APOB):c.7659G>A (p.Trp2553Ter)
NM_000388.4(CASR):c.664G>A (p.Gly222Arg) rs2107632066
NM_000404.4(GLB1):c.1347+1G>A
NM_000414.4(HSD17B4):c.1121del (p.Leu374fs) rs2126781231
NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro) rs111033305
NM_000443.4(ABCB4):c.3136C>T (p.Arg1046Ter) rs759202962
NM_000463.3(UGT1A1):c.1060T>G (p.Trp354Gly)
NM_000474.4(TWIST1):c.385_405dup (p.Ala129_Ile135dup) rs748476974
NM_000478.6(ALPL):c.1360C>T (p.His454Tyr) rs2148194615
NM_000489.6(ATRX):c.671C>T (p.Ala224Val)
NM_000503.6(EYA1):c.682_686dup (p.Tyr230fs) rs2128999992
NM_000516.7(GNAS):c.124dup (p.Arg42fs) rs2145916852
NM_000516.7(GNAS):c.212+1_212+3del rs2146006354
NM_000525.4(KCNJ11):c.160dup (p.Arg54fs)
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.440C>T (p.Thr147Ile) rs879254524
NM_000531.6(OTC):c.618G>T (p.Met206Ile)
NM_000548.5(TSC2):c.5228G>T (p.Arg1743Leu) rs45507199
NM_000550.3(TYRP1):c.1103del (p.Lys368fs) rs387906560
NM_000552.5(VWF):c.5293G>T (p.Gly1765Ter) rs1268910016
NM_000642.3(AGL):c.4249_4250del (p.Leu1417fs)
NM_000642.3(AGL):c.4562C>T (p.Ser1521Leu)
NM_000702.4(ATP1A2):c.2809C>T (p.Arg937Cys) rs1558009266
NM_000719.7(CACNA1C):c.2460+2T>G
NM_000834.5(GRIN2B):c.1308C>A (p.Cys436Ter)
NM_000901.5(NR3C2):c.2771T>C (p.Leu924Pro) rs121912563
NM_000937.5(POLR2A):c.3700A>G (p.Lys1234Glu) rs2150887735
NM_000937.5(POLR2A):c.742A>T (p.Met248Leu)
NM_000944.5(PPP3CA):c.843C>G (p.His281Gln) rs199706529
NM_001005273.3(CHD3):c.2798_2799del (p.Arg933fs)
NM_001005273.3(CHD3):c.2975A>G (p.Gln992Arg)
NM_001009944.3(PKD1):c.2877_2880del (p.Gly960fs) rs2151809215
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu) rs2092438025
NM_001031689.3(PLAA):c.1570C>T (p.Arg524Ter)
NM_001031710.3(KLHL7):c.562A>T (p.Lys188Ter) rs2128464395
NM_001035.3(RYR2):c.14711G>A (p.Gly4904Asp) rs886038888
NM_001035.3(RYR2):c.727G>T (p.Glu243Ter)
NM_001037333.3(CYFIP2):c.887A>T (p.Asp296Val)
NM_001040616.3(LINS1):c.431del (p.Leu144fs) rs764442764
NM_001042492.3(NF1):c.1585C>T (p.Leu529Phe) rs1135402816
NM_001042492.3(NF1):c.1658A>C (p.His553Pro) rs1064794274
NM_001042492.3(NF1):c.2964dup (p.Glu989Ter) rs2067084803
NM_001042492.3(NF1):c.3568G>A (p.Gly1190Ser) rs1597719982
NM_001042492.3(NF1):c.3796_3797del (p.Glu1266fs) rs2151437911
NM_001042492.3(NF1):c.4381A>T (p.Met1461Leu) rs1555618675
NM_001042492.3(NF1):c.4611_4612del (p.Asp1537fs)
NM_001042492.3(NF1):c.7666dup (p.Arg2556fs) rs2151581134
NM_001042492.3(NF1):c.7920T>G (p.Tyr2640Ter) rs1060500333
NM_001070.5(TUBG1):c.725C>T (p.Thr242Ile)
NM_001079668.3(NKX2-1):c.664G>T (p.Glu222Ter) rs1555349209
NM_001079872.2(CUL4B):c.181_182del (p.Thr61fs)
NM_001080424.2(KDM6B):c.4933_4976dup (p.Pro1661fs) rs2151380462
NM_001080453.3(INTS1):c.1855G>T (p.Glu619Ter) rs1456894020
NM_001083116.3(PRF1):c.963del (p.Glu323fs) rs2132476029
NM_001083619.3(GRIA2):c.1667G>A (p.Gly556Glu)
NM_001100.4(ACTA1):c.435C>A (p.Tyr145Ter) rs371410845
NM_001101426.4(CRPPA):c.789G>A (p.Lys263=)
NM_001110556.2(FLNA):c.7732T>C (p.Phe2578Leu)
NM_001114753.3(ENG):c.1586G>A (p.Arg529His) rs863223538
NM_001114753.3(ENG):c.1687-1G>A rs1554809106
NM_001126108.2(SLC12A3):c.852+1G>A rs2055084531
NM_001127222.2(CACNA1A):c.1647del (p.Phe550fs) rs2058057299
NM_001127222.2(CACNA1A):c.526G>A (p.Val176Met) rs1057521920
NM_001127222.2(CACNA1A):c.815G>A (p.Cys272Tyr) rs771682941
NM_001127898.4(CLCN5):c.1014+1G>A rs2147594243
NM_001130438.3(SPTAN1):c.1210C>T (p.Gln404Ter) rs2131030804
NM_001130438.3(SPTAN1):c.840dup (p.Asp281Ter) rs2131011877
NM_001134382.3(IQSEC1):c.1470dup (p.Tyr491fs) rs2125304158
NM_001136035.4(TRMT1):c.35del (p.Phe12fs)
NM_001142800.2(EYS):c.5644+1G>A
NM_001142864.4(PIEZO1):c.4341del (p.Tyr1448fs)
NM_001162501.2(TNRC6B):c.4921_4922insCC (p.Gly1641fs)
NM_001162501.2(TNRC6B):c.4974+2T>C rs2146570387
NM_001163435.3(TBCK):c.2044_2048del (p.Phe682fs) rs778000956
NM_001164508.2(NEB):c.18228_18229insCC (p.Arg6077fs)
NM_001165963.4(SCN1A):c.4476G>A (p.Lys1492=) rs1085307730
NM_001170629.2(CHD8):c.5326C>T (p.Arg1776Ter) rs1085307794
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys) rs1223371144
NM_001174147.2(LMX1B):c.722del (p.Ser241fs)
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169
NM_001177316.2(SLC34A3):c.925+20_926-48del rs1554784044
NM_001190274.2(FBXO11):c.2729A>G (p.Asp910Gly) rs1670355281
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs) rs1055318738
NM_001195553.2(DCX):c.799del (p.Asp267fs) rs2147635206
NM_001204.7(BMPR2):c.1285_1286insGATTG (p.Val429fs)
NM_001204077.2(UBE4A):c.217C>T (p.Arg73Ter)
NM_001205293.3(CACNA1E):c.1090C>T (p.Arg364Ter)
NM_001256627.2(BRSK2):c.1668G>A (p.Ser556=)
NM_001256864.2(DNAJC6):c.49G>T (p.Glu17Ter) rs1219237924
NM_001257180.2(SLC20A2):c.1723G>A (p.Glu575Lys) rs387906653
NM_001270.4(CHD1):c.1978A>G (p.Ile660Val)
NM_001271938.2(MEGF8):c.3931G>T (p.Glu1311Ter)
NM_001276345.2(TNNT2):c.295-1G>C
NM_001282116.2(RFX3):c.973+3A>G
NM_001282534.2(KCNK9):c.392G>A (p.Arg131His) rs867543866
NM_001287.6(CLCN7):c.1077C>A (p.Asn359Lys) rs2142378398
NM_001287491.2(TET3):c.3343C>G (p.Leu1115Val) rs2104198321
NM_001287491.2(TET3):c.5062C>G (p.Arg1688Gly) rs2104233612
NM_001291303.3(FAT4):c.6982G>T (p.Glu2328Ter)
NM_001291415.2(KDM6A):c.565-401A>G
NM_001303052.2(MYT1L):c.1543G>A (p.Gly515Ser)
NM_001303256.3(MORC2):c.328C>T (p.Arg110Cys) rs2040817364
NM_001308120.2(TOGARAM1):c.4150C>T (p.Gln1384Ter)
NM_001329943.3(KIAA0586):c.1957C>T (p.Gln653Ter) rs2140886548
NM_001330260.2(SCN8A):c.2824_2825insA (p.Trp942Ter) rs2138863024
NM_001330260.2(SCN8A):c.4044G>C (p.Leu1348Phe)
NM_001330288.2(SMARCC2):c.805C>T (p.Arg269Ter) rs2135734683
NM_001347721.2(DYRK1A):c.1009T>C (p.Ser337Pro) rs724159951
NM_001347721.2(DYRK1A):c.1736C>A (p.Thr579Asn) rs724159955
NM_001348323.3(TRIP12):c.2996A>T (p.Glu999Val) rs2154270375
NM_001348323.3(TRIP12):c.5259_5276delinsAAATGATATG (p.Leu1754fs) rs2154245501
NM_001349338.3(FOXP1):c.1451del (p.Lys484fs)
NM_001349798.2(FBXW7):c.1315A>G (p.Thr439Ala)
NM_001351169.2(NT5C2):c.312_313del (p.Leu105fs) rs763305896
NM_001353345.2(SETD1B):c.2158del (p.His720fs)
NM_001353345.2(SETD1B):c.2943del (p.Arg982fs)
NM_001356.5(DDX3X):c.1155del (p.Pro386fs)
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg) rs121909764
NM_001360.3(DHCR7):c.970T>C (p.Tyr324His) rs1173707321
NM_001365999.1(SZT2):c.6120_6122del (p.Val2041del) rs746200792
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs) rs745420974
NM_001366521.1(ATP2B1):c.406+1G>A
NM_001367534.1(CAMK2G):c.875G>C (p.Arg292Pro) rs397514627
NM_001367624.2(ZNF469):c.6444del (p.Gln2149fs) rs886044697
NM_001367873.1(SOX6):c.535G>A (p.Gly179Ser)
NM_001371623.1(TCOF1):c.1916del (p.Pro639fs) rs2150732608
NM_001372044.2(SHANK3):c.646C>G (p.Pro216Ala) rs397514705
NM_001374828.1(ARID1B):c.2742_2750delinsAC (p.Met914fs)
NM_001376.5(DYNC1H1):c.4053G>A (p.Trp1351Ter)
NM_001376.5(DYNC1H1):c.9547dup (p.Tyr3183fs) rs2152590132
NM_001376571.1(MADD):c.1291-2A>G rs756420276
NM_001376571.1(MADD):c.310C>T (p.Arg104Ter) rs766120355
NM_001378120.1(MBD5):c.1438C>T (p.Gln480Ter)
NM_001378418.1(TCF20):c.2512_2515del (p.Asp838fs) rs1601598682
NM_001378418.1(TCF20):c.4943del (p.Thr1648fs) rs1569143903
NM_001378418.1(TCF20):c.731C>T (p.Ser244Phe)
NM_001378615.1(CC2D2A):c.834del (p.Leu279fs) rs386833765
NM_001378778.1(MPDZ):c.1445T>A (p.Leu482Ter)
NM_001378778.1(MPDZ):c.409_410delinsC (p.Val137fs)
NM_001379403.1(WDR26):c.1082A>G (p.His361Arg)
NM_001382637.1(OTUD7A):c.893+1del
NM_001384125.1(BLTP1):c.1752+2T>G
NM_001384732.1(CPLANE1):c.49A>T (p.Lys17Ter) rs2150867081
NM_001386135.1(AFF3):c.713T>C (p.Met238Thr) rs1682014084
NM_001386298.1(CIC):c.1582C>T (p.Arg528Ter) rs2147018633
NM_001393769.1(MED12L):c.3664+1G>A
NM_001394998.1(TANC2):c.3528_3536delinsAGCAGGGCCGCAGACAAGCAGGGCCGCAAGCAGACAA (p.Pro1177fs) rs2048501596
NM_001394998.1(TANC2):c.587C>G (p.Ser196Ter)
NM_001399.5(EDA):c.706+1G>A rs886039344
NM_001399.5(EDA):c.798T>C (p.Leu266=) rs2147516257
NM_001561.6(TNFRSF9):c.573del (p.Ala193fs) rs1639761448
NM_001613.4(ACTA2):c.325del (p.Glu109fs) rs2133261333
NM_001613.4(ACTA2):c.352C>T (p.Arg118Trp) rs1845899655
NM_001694.4(ATP6V0C):c.404T>C (p.Leu135Pro)
NM_001797.4(CDH11):c.778G>C (p.Asp260His)
NM_001844.5(COL2A1):c.2625+1del rs2136537220
NM_001844.5(COL2A1):c.610-2A>G
NM_001845.6(COL4A1):c.2977G>A (p.Gly993Ser) rs2139162416
NM_001846.4(COL4A2):c.2203+1G>C
NM_001846.4(COL4A2):c.274G>T (p.Glu92Ter)
NM_001849.4(COL6A2):c.1021C>A (p.Pro341Thr)
NM_001904.4(CTNNB1):c.1690dup (p.Val564fs)
NM_001913.5(CUX1):c.1813dup (p.Leu605fs)
NM_001930.4(DHPS):c.216_217dup (p.Lys73fs) rs765706154
NM_001958.5(EEF1A2):c.1309G>T (p.Val437Phe) rs1057521655
NM_002016.2(FLG):c.2933C>A (p.Ser978Ter) rs575855434
NM_002016.2(FLG):c.4925_4928del (p.Ser1642fs) rs2101646027
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) rs578184315
NM_002335.4(LRP5):c.209_210delinsAA (p.Phe70Ter) rs2098614719
NM_002397.5(MEF2C):c.134T>C (p.Leu45Pro)
NM_002448.3(MSX1):c.250G>T (p.Glu84Ter)
NM_002471.4(MYH6):c.1223G>A (p.Gly408Asp)
NM_002474.3(MYH11):c.1069_1082del (p.Gly357fs) rs1235801428
NM_002474.3(MYH11):c.2380C>T (p.Gln794Ter) rs2151259960
NM_002480.3(PPP1R12A):c.1567C>T (p.Arg523Ter) rs761795743
NM_002585.4(PBX1):c.608_619del (p.Ile203_Arg206del)
NM_002693.3(POLG):c.2287G>A (p.Gly763Arg)
NM_002693.3(POLG):c.2981+2T>G rs775260762
NM_002693.3(POLG):c.624C>A (p.Cys208Ter) rs1159974816
NM_002715.4(PPP2CA):c.133G>A (p.Val45Met) rs1393362032
NM_002834.5(PTPN11):c.1187A>G (p.Tyr396Cys)
NM_002834.5(PTPN11):c.1282G>T (p.Val428Leu) rs397507536
NM_002834.5(PTPN11):c.178G>A (p.Gly60Ser) rs397507507
NM_002834.5(PTPN11):c.802G>A (p.Gly268Ser) rs397507527
NM_002887.4(RARS1):c.175C>T (p.Arg59Ter) rs749027104
NM_002941.4(ROBO1):c.2440_2442+4del
NM_002971.6(SATB1):c.923dup (p.Ser309fs)
NM_002979.5(SCP2):c.588dup
NM_003011.4(SET):c.138dup (p.Glu47Ter)
NM_003024.3(ITSN1):c.2772G>A (p.Trp924Ter)
NM_003042.4(SLC6A1):c.281G>A (p.Gly94Glu) rs1553688015
NM_003042.4(SLC6A1):c.855G>A (p.Trp285Ter) rs2124924957
NM_003051.4(SLC16A1):c.747_750del (p.Asn250fs) rs606231311
NM_003052.5(SLC34A1):c.504dup (p.Ile169fs)
NM_003221.4(TFAP2B):c.707G>A (p.Arg236His) rs1325125531
NM_003239.5(TGFB3):c.884del (p.Gly295fs)
NM_003403.5(YY1):c.690dup (p.Asp231fs) rs759536629
NM_003470.3(USP7):c.3281T>G (p.Leu1094Arg) rs2141156206
NM_003588.4(CUL4B):c.2493G>A (p.Thr831=) rs2147321510
NM_003611.3(OFD1):c.1485del (p.Glu496fs) rs2047765952
NM_003619.4(PRSS12):c.441_442del (p.Trp148fs) rs760638778
NM_003620.4(PPM1D):c.1412del (p.Pro471fs) rs780195897
NM_003620.4(PPM1D):c.1606del (p.Arg536fs) rs2031564242
NM_003922.4(HERC1):c.6586C>T (p.Arg2196Ter) rs774206954
NM_004004.6(GJB2):c.136G>C (p.Asp46His) rs1064797088
NM_004035.7(ACOX1):c.1789_1792del (p.Leu596_Thr597insTer)
NM_004187.5(KDM5C):c.2041C>T (p.Arg681Ter) rs370032584
NM_004208.4(AIFM1):c.506C>T (p.Pro169Leu) rs2030801584
NM_004268.5(MED17):c.1299_1302del (p.Ala435fs) rs763249105
NM_004333.6(BRAF):c.785A>G (p.Gln262Arg) rs397516904
NM_004341.5(CAD):c.4810C>T (p.Gln1604Ter) rs1676113645
NM_004380.3(CREBBP):c.3940A>T (p.Lys1314Ter) rs2151354104
NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr) rs1567263529
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs) rs587783507
NM_004380.3(CREBBP):c.5961_5981delinsGCAT (p.Met1988fs) rs2151306905
NM_004397.6(DDX6):c.1187G>A (p.Arg396Gln) rs1860933779
NM_004415.4(DSP):c.5327_5330del (p.Glu1776fs) rs1394836623
NM_004434.3(EML1):c.136C>T (p.Gln46Ter)
NM_004586.3(RPS6KA3):c.1679G>A (p.Cys560Tyr)
NM_004586.3(RPS6KA3):c.212dup (p.Leu71fs) rs2148732123
NM_004606.5(TAF1):c.4286A>C (p.Gln1429Pro) rs2148488146
NM_004655.4(AXIN2):c.2045dup (p.Asp682fs)
NM_004699.4(FAM50A):c.764A>G (p.Asp255Gly) rs2068797192
NM_004713.6(NEMF):c.2096-2A>G rs2139857246
NM_004722.4(AP4M1):c.930-1G>C
NM_004789.4(LHX2):c.182_187delinsACCT (p.Ser61fs)
NM_004859.4(CLTC):c.2096_2099del (p.Ile699fs)
NM_004974.4(KCNA2):c.585dup (p.His196fs)
NM_004985.5(KRAS):c.229G>T (p.Gly77Cys) rs2141509652
NM_004999.4(MYO6):c.2416+2T>C
NM_005045.4(RELN):c.7120G>T (p.Glu2374Ter)
NM_005045.4(RELN):c.9455G>A (p.Trp3152Ter)
NM_005188.4(CBL):c.1111T>A (p.Tyr371Asn) rs267606706
NM_005215.4(DCC):c.2034_2038del (p.Asn678fs)
NM_005215.4(DCC):c.2551C>T (p.Gln851Ter)
NM_005359.6(SMAD4):c.50_51del (p.Leu17fs)
NM_005359.6(SMAD4):c.875del (p.Pro292fs)
NM_005378.6(MYCN):c.403C>T (p.Gln135Ter)
NM_005378.6(MYCN):c.727C>T (p.Gln243Ter)
NM_005378.6(MYCN):c.963dup (p.Arg322fs) rs2103330798
NM_005392.4(PHF2):c.2749C>T (p.Gln917Ter) rs1826897308
NM_005445.4(SMC3):c.1343dup (p.Glu449fs) rs2134735614
NM_005445.4(SMC3):c.1812+1G>A rs1861198554
NM_005477.3(HCN4):c.1061A>G (p.Tyr354Cys) rs2151221183
NM_005559.4(LAMA1):c.5108dup (p.Glu1704fs)
NM_005559.4(LAMA1):c.5965C>T (p.Gln1989Ter) rs2144047886
NM_005618.4(DLL1):c.1443del (p.Val482fs)
NM_005618.4(DLL1):c.1574dup (p.Ala528fs) rs2114958269
NM_005618.4(DLL1):c.76G>T (p.Glu26Ter) rs2114966765
NM_005629.4(SLC6A8):c.1317_1321del (p.Arg440fs)
NM_005639.3(SYT1):c.926C>T (p.Ser309Phe) rs2136007588
NM_005650.4(TCF20):c.5521C>A (p.Gln1841Lys) rs2147193882
NM_005654.6(NR2F1):c.1205_1206del (p.Leu402fs)
NM_005660.3(SLC35A2):c.803C>T (p.Thr268Ile) rs2147486594
NM_005763.4(AASS):c.2196dup (p.Ala733fs) rs1473312640
NM_005859.5(PURA):c.350T>C (p.Phe117Ser) rs1763045003
NM_005902.4(SMAD3):c.808_812delinsAGA (p.Cys270fs) rs2140314299
NM_006009.4(TUBA1A):c.362G>A (p.Arg121Gln) rs2121246284
NM_006019.4(TCIRG1):c.862_866delinsG (p.Leu288fs) rs1855343916
NM_006030.4(CACNA2D2):c.1555C>T (p.Gln519Ter) rs1559887808
NM_006035.4(CDC42BPB):c.2T>C (p.Met1Thr)
NM_006218.4(PIK3CA):c.1345C>A (p.Pro449Thr) rs1724674149
NM_006218.4(PIK3CA):c.344G>C (p.Arg115Pro) rs200018596
NM_006231.4(POLE):c.6398_6407del (p.Val2133fs) rs2138431829
NM_006245.4(PPP2R5D):c.649T>C (p.Phe217Leu)
NM_006268.5(DPF2):c.1099+2dup rs2137711145
NM_006295.3(VARS1):c.2821_2825del (p.Asn941fs) rs2151419208
NM_006303.4(AIMP2):c.72_73del (p.Met24fs) rs1786357576
NM_006306.4(SMC1A):c.3497A>G (p.Asn1166Ser) rs1556885810
NM_006421.5(ARFGEF1):c.209C>G (p.Ser70Ter)
NM_006421.5(ARFGEF1):c.3182del (p.Gly1061fs)
NM_006494.4(ERF):c.939C>A (p.Tyr313Ter) rs1216061173
NM_006521.6(TFE3):c.556C>T (p.Pro186Ser)
NM_006545.5(NPRL2):c.3G>T (p.Met1Ile) rs1703727528
NM_006565.4(CTCF):c.721_722del (p.Asn241fs)
NM_006642.5(SDCCAG8):c.1853+2T>C
NM_006662.3(SRCAP):c.7703C>T (p.Ser2568Phe)
NM_006734.4(HIVEP2):c.4655del (p.Pro1552fs)
NM_006734.4(HIVEP2):c.5188-1del
NM_006765.4(TUSC3):c.55_69delinsGC (p.Tyr19fs)
NM_006766.5(KAT6A):c.4861C>T (p.Gln1621Ter) rs2150855722
NM_006901.4(MYO9A):c.3001-2A>G rs2143524373
NM_006922.4(SCN3A):c.4448T>G (p.Ile1483Ser) rs2105636283
NM_006929.5(SKIC2):c.2203-1G>A
NM_006941.4(SOX10):c.523C>T (p.Pro175Ser) rs1555938395
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser) rs61736587
NM_007059.4(KPTN):c.863G>C (p.Arg288Pro)
NM_007118.4(TRIO):c.4495del (p.Thr1499fs) rs2152373759
NM_007118.4(TRIO):c.4649dup (p.Asp1551fs)
NM_007192.4(SUPT16H):c.2077C>T (p.Arg693Ter)
NM_007194.4(CHEK2):c.480AGA[1] (p.Glu161del) rs587782008
NM_007217.4(PDCD10):c.73_76dup (p.Met26fs)
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs) rs796052862
NM_007325.5(GRIA3):c.1358G>A (p.Gly453Asp) rs2147384854
NM_012064.4(MIP):c.559del (p.Arg187fs)
NM_012090.5(MACF1):c.1972C>T (p.Leu658Phe) rs2148401189
NM_012102.4(RERE):c.70_73dup (p.Lys25fs) rs759541634
NM_012179.4(FBXO7):c.1033C>T (p.Arg345Ter)
NM_012309.5(SHANK2):c.460C>T (p.Gln154Ter) rs1327654017
NM_013254.4(TBK1):c.1922AAG[2] (p.Glu643del) rs1402092579
NM_013275.6(ANKRD11):c.1009C>T (p.Gln337Ter) rs2151766442
NM_013275.6(ANKRD11):c.1977del (p.Thr658_Tyr659insTer) rs2151761883
NM_013275.6(ANKRD11):c.2777del (p.Lys926fs) rs2151758291
NM_013275.6(ANKRD11):c.3597_3598del (p.Lys1200fs)
NM_013275.6(ANKRD11):c.7534C>T (p.Arg2512Trp) rs2033536147
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys) rs2147938135
NM_014112.5(TRPS1):c.2756T>C (p.Leu919Pro) rs1554617573
NM_014112.5(TRPS1):c.2757_2758dup (p.Trp920fs)
NM_014141.6(CNTNAP2):c.3262C>T (p.Arg1088Ter) rs766777011
NM_014271.4(IL1RAPL1):c.148C>T (p.Arg50Ter) rs781674023
NM_014271.4(IL1RAPL1):c.366_379delinsGTAACAAAG (p.Asn122_Met127delinsLysTer)
NM_014305.4(TGDS):c.270_271del (p.Lys91fs) rs727502809
NM_014319.5(LEMD3):c.1808_1812del (p.Thr603fs) rs2136353868
NM_014363.6(SACS):c.6186dup (p.Pro2063fs) rs2137611917
NM_014458.4(KLHL20):c.1069G>A (p.Gly357Arg) rs1673582111
NM_014780.5(CUL7):c.3368_3369del (p.Arg1123fs)
NM_014806.5(RUSC2):c.910C>T (p.Gln304Ter) rs1821779826
NM_014855.3(AP5Z1):c.505C>T (p.Gln169Ter)
NM_014946.4(SPAST):c.1348A>G (p.Arg450Gly) rs1553318223
NM_014946.4(SPAST):c.1492A>G (p.Arg498Gly) rs1553318350
NM_014991.6(WDFY3):c.9496C>T (p.Arg3166Ter) rs866536893
NM_015001.3(SPEN):c.1945del (p.Asp649fs)
NM_015015.3(KDM4B):c.2343dup (p.Gly782fs)
NM_015021.3(ZNF292):c.3491C>G (p.Ser1164Ter)
NM_015021.3(ZNF292):c.814G>A (p.Ala272Thr)
NM_015047.3(EMC1):c.2802+2T>C
NM_015125.5(CIC):c.3617del (p.Gln1206fs) rs2147320674
NM_015202.5(KATNIP):c.4133+1G>A rs2144173006
NM_015215.4(CAMTA1):c.1521_1528del (p.Met507fs)
NM_015215.4(CAMTA1):c.2452G>T (p.Glu818Ter)
NM_015215.4(CAMTA1):c.2657G>A (p.Gly886Glu) rs2149221544
NM_015215.4(CAMTA1):c.4687C>T (p.Gln1563Ter) rs2150125399
NM_015215.4(CAMTA1):c.4744C>T (p.Arg1582Ter) rs2150160606
NM_015311.3(OBSL1):c.2222C>G (p.Ser741Ter)
NM_015346.4(ZFYVE26):c.2554-1G>C rs760559263
NM_015465.5(GEMIN5):c.1267C>T (p.Gln423Ter)
NM_015466.4(PTPN23):c.3581_3584del (p.Val1194fs) rs760750644
NM_015570.4(AUTS2):c.2005-1G>C
NM_015896.4(ZMYND10):c.1248-1G>T
NM_015937.6(PIGT):c.245_246del (p.Leu82fs) rs2145433134
NM_016023.5(OTUD6B):c.192_195del (p.Glu65fs) rs748735420
NM_016030.6(TRAPPC12):c.1164+1G>T
NM_016148.5(SHANK1):c.733C>T (p.Arg245Trp)
NM_016194.4(GNB5):c.375+1G>A
NM_016284.5(CNOT1):c.3811C>T (p.Gln1271Ter)
NM_016580.4(PCDH12):c.309del (p.Cys104fs) rs1753206427
NM_016580.4(PCDH12):c.669dup (p.Lys224fs) rs776111123
NM_016604.4(KDM3B):c.3082C>T (p.Arg1028Trp) rs2126962006
NM_016628.5(WAC):c.67C>T (p.Gln23Ter) rs1836464000
NM_016648.4(LARP7):c.119dup (p.Gln41fs) rs1560923303
NM_017617.5(NOTCH1):c.2112C>A (p.Cys704Ter)
NM_017780.4(CHD7):c.3269_3272del (p.Asp1090fs)
NM_017780.4(CHD7):c.3478del (p.Thr1160fs)
NM_017807.4(OSGEP):c.365G>T (p.Gly122Val) rs1166790792
NM_017934.7(PHIP):c.797A>G (p.His266Arg) rs1270288366
NM_018255.4(ELP2):c.293dup (p.Leu98fs) rs529659464
NM_018489.3(ASH1L):c.4902_4903del (p.Ser1635fs) rs1665684529
NM_019024.3(HEATR5B):c.1615C>T (p.Arg539Ter)
NM_019026.6(TMCO1):c.147dup (p.Leu50fs) rs777163859
NM_019066.5(MAGEL2):c.2319del (p.Ala772_Trp773insTer)
NM_019616.4(F7):c.1325del (p.Pro442fs) rs750457207
NM_020166.5(MCCC1):c.848AGA[1] (p.Lys284del) rs1715495987
NM_020320.5(RARS2):c.536-1G>A
NM_020338.4(ZMIZ1):c.2019+1G>A
NM_020338.4(ZMIZ1):c.2083C>T (p.Leu695Phe) rs1854350169
NM_020436.5(SALL4):c.2078del (p.Val693fs) rs2122962179
NM_020699.4(GATAD2B):c.676C>T (p.Pro226Ser)
NM_020706.2(SCAF4):c.294T>G (p.Tyr98Ter)
NM_020719.3(PRR12):c.2218G>T (p.Glu740Ter)
NM_020719.3(PRR12):c.3950_3951del (p.Val1317fs)
NM_020771.4(HACE1):c.2552dup (p.Gly852fs) rs745394044
NM_020791.4(TAOK1):c.653T>C (p.Leu218Pro)
NM_020791.4(TAOK1):c.692T>A (p.Met231Lys)
NM_020843.4(SCAPER):c.125-1G>A rs2151864247
NM_020987.5(ANK3):c.4365_4368del (p.Arg1456fs) rs2084966849
NM_021008.4(DEAF1):c.664G>A (p.Gly222Ser)
NM_021120.4(DLG3):c.116dup (p.Tyr39Ter)
NM_021120.4(DLG3):c.1447C>T (p.Gln483Ter) rs2147842078
NM_021120.4(DLG3):c.159del (p.Tyr54fs) rs1602857000
NM_021224.6(ZNF462):c.4180del (p.Trp1394fs)
NM_021830.5(TWNK):c.252dup (p.Ala85fs)
NM_022101.4(STEEP1):c.79del (p.Leu27fs)
NM_022893.4(BCL11A):c.176A>T (p.Asp59Val)
NM_023067.4(FOXL2):c.927del (p.Pro310fs)
NM_024426.6(WT1):c.1498C>T (p.Arg500Trp)
NM_024496.4(IRF2BPL):c.1271_1272dup (p.Thr425fs)
NM_024496.4(IRF2BPL):c.1922A>C (p.Lys641Thr) rs2140377197
NM_024665.7(TBL1XR1):c.665T>A (p.Val222Asp)
NM_024757.5(EHMT1):c.3239T>C (p.Met1080Thr)
NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys) rs886041093
NM_024757.5(EHMT1):c.3610del (p.Glu1204fs)
NM_024989.4(PGAP1):c.1155T>G (p.Tyr385Ter) rs1430249191
NM_025074.7(FRAS1):c.7522+2_7522+4del rs1719735626
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs) rs778407127
NM_025114.4(CEP290):c.4028del (p.Lys1343fs) rs1213286417
NM_030632.3(ASXL3):c.1609_1612del (p.Leu537fs)
NM_030912.3(TRIM8):c.1062del (p.Pro355fs)
NM_032436.4(CHAMP1):c.1166C>G (p.Ser389Ter) rs2139420368
NM_032608.7(MYO18B):c.7373del (p.Ala2458fs) rs2147024104
NM_032861.4(SERAC1):c.1822_1828+10delinsACCAACAGG rs1554260851
NM_033380.3(COL4A5):c.1120G>A (p.Gly374Arg) rs2066342176
NM_033380.3(COL4A5):c.2294del (p.Pro765fs) rs2066735315
NM_033380.3(COL4A5):c.4217-1G>A rs587776402
NM_033380.3(COL4A5):c.60G>A (p.Trp20Ter)
NM_033380.3(COL4A5):c.938G>T (p.Gly313Val) rs2147781020
NM_033550.4(TP53RK):c.309dup (p.Val104fs) rs2122963096
NM_052867.4(NALCN):c.4327G>A (p.Val1443Ile)
NM_052867.4(NALCN):c.518G>A (p.Arg173Gln)
NM_053274.3(GLMN):c.1323dup (p.Thr442fs) rs771252983
NM_057175.5(NAA15):c.1841dup (p.Asn614fs) rs1283385686
NM_057175.5(NAA15):c.219G>T (p.Leu73Phe)
NM_058004.4(PI4KA):c.2751del (p.Cys918fs)
NM_080632.3(UPF3B):c.1174G>T (p.Glu392Ter) rs1472437659
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn) rs2145836461
NM_130839.5(UBE3A):c.1782del (p.Lys594fs) rs1555391286
NM_130839.5(UBE3A):c.2508_2510dup (p.Ser837_His838insSer)
NM_134261.3(RORA):c.1092_1095dup (p.Ile366fs) rs2065374158
NM_134261.3(RORA):c.203T>A (p.Ile68Asn)
NM_138422.4(ADAT3):c.24_37del (p.Pro10fs) rs752360082
NM_138773.4(SLC25A46):c.479G>A (p.Trp160Ter) rs1561602892
NM_145059.3(FCSK):c.669_670del (p.Val225fs)
NM_145200.5(CABP4):c.625C>T (p.Arg209Ter) rs779788706
NM_152296.5(ATP1A3):c.385G>A (p.Val129Met) rs1555865401
NM_152564.5(VPS13B):c.8042_8043del (p.Gly2681fs) rs1554560735
NM_152564.5(VPS13B):c.8446-1G>T rs1554566596
NM_152594.3(SPRED1):c.24_25dup (p.Asp9fs) rs2140943428
NM_152594.3(SPRED1):c.867dup (p.Ser290fs)
NM_153252.5(BRWD3):c.144G>A (p.Trp48Ter)
NM_170606.3(KMT2C):c.4629delinsCC (p.Thr1545fs) rs2129128809
NM_170675.5(MEIS2):c.754+2T>C rs1892542522
NM_170675.5(MEIS2):c.968T>G (p.Val323Gly) rs2141389703
NM_170707.4(LMNA):c.331G>A (p.Glu111Lys)
NM_170784.3(MKKS):c.624_625del (p.Arg208fs) rs762613490
NM_172362.3(KCNH1):c.210G>A (p.Met70Ile)
NM_173348.2(FAM149B1):c.1183C>T (p.Arg395Ter)
NM_173354.5(SIK1):c.1839C>A (p.Cys613Ter)
NM_176806.4(MOCS2):c.-8_15del (p.Met1fs) rs397518417
NM_177550.5(SLC13A5):c.425del (p.Thr142fs) rs2151495220
NM_177559.3(CSNK2A1):c.916C>T (p.Arg306Ter) rs1380843831
NM_177986.5(DSG4):c.82G>T (p.Glu28Ter) rs756862725
NM_178012.5(TUBB2B):c.518C>G (p.Pro173Arg) rs2113819240
NM_181552.4(CUX1):c.3815_3884dup (p.Tyr1295Ter)
NM_182760.4(SUMF1):c.416T>G (p.Phe139Cys) rs746433657
NM_182760.4(SUMF1):c.726-1_726del rs1575196325
NM_182931.3(KMT2E):c.186G>A (p.Ala62=)
NM_182931.3(KMT2E):c.3784A>T (p.Arg1262Ter)
NM_183357.3(ADCY5):c.989G>A (p.Trp330Ter)
NM_194277.3(FRMD7):c.886G>T (p.Gly296Cys)
NM_194454.3(KRIT1):c.1564-2A>T
NM_197968.4(ZMYM2):c.1765C>T (p.Arg589Ter) rs1952668177
NM_197968.4(ZMYM2):c.337del (p.Ser112_Val113insTer)
NM_198334.3(GANAB):c.517C>T (p.Arg173Ter)
NM_198525.3(KIF7):c.2059C>T (p.Arg687Ter) rs138736028
NM_198880.3(QRICH1):c.1786+1G>A rs2106854800
NM_198880.3(QRICH1):c.2159G>A (p.Arg720Gln)
NM_198880.3(QRICH1):c.2280_2281del (p.Ile760fs)
NM_201521.3(KLC4):c.553G>T (p.Glu185Ter) rs1033630760
NM_203290.4(POLR1C):c.208dup (p.Ala70fs) rs1561856961
NM_203475.3(PORCN):c.1001A>G (p.Tyr334Cys) rs2061711638
NM_203486.3(DLL3):c.1272dup (p.Asp425fs)
NM_203486.3(DLL3):c.1312T>A (p.Cys438Ser)
NM_205768.3(ZBTB18):c.1147del (p.Leu383fs) rs1698428309
NM_207037.2(TCF12):c.784C>T (p.Gln262Ter)

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