ClinVar Miner

List of variants in gene combination IFT140, LOC105371046 reported as uncertain significance for Jeune syndrome

Included ClinVar conditions (49):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 287
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.546C>T (p.Asp182=) rs150014480 0.00120
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln) rs141993139 0.00081
NM_014714.4(IFT140):c.369+12C>T rs192986766 0.00034
NM_014714.4(IFT140):c.1360-14G>A rs369246649 0.00032
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys) rs141993646 0.00027
NM_014714.4(IFT140):c.1331T>C (p.Met444Thr) rs148663745 0.00026
NM_014714.4(IFT140):c.179G>A (p.Arg60Lys) rs148093208 0.00022
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln) rs145718272 0.00021
NM_014714.4(IFT140):c.1230G>A (p.Ser410=) rs199840711 0.00020
NM_014714.4(IFT140):c.1417G>A (p.Ala473Thr) rs149642543 0.00019
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) rs145267929 0.00014
NM_014714.4(IFT140):c.128T>C (p.Val43Ala) rs372148301 0.00013
NM_014714.4(IFT140):c.728A>G (p.Glu243Gly) rs539181813 0.00013
NM_014714.4(IFT140):c.1364C>T (p.Ala455Val) rs201949058 0.00011
NM_014714.4(IFT140):c.634+6G>C rs368229365 0.00011
NM_014714.4(IFT140):c.823G>A (p.Gly275Arg) rs146163533 0.00010
NM_014714.4(IFT140):c.1504G>A (p.Val502Ile) rs183261797 0.00009
NM_014714.4(IFT140):c.37G>T (p.Asp13Tyr) rs554065722 0.00009
NM_014714.4(IFT140):c.633C>T (p.Asp211=) rs201319525 0.00009
NM_014714.4(IFT140):c.160C>T (p.Pro54Ser) rs771294438 0.00008
NM_014714.4(IFT140):c.1010-10C>T rs376722338 0.00007
NM_014714.4(IFT140):c.1376G>C (p.Trp459Ser) rs778311141 0.00007
NM_014714.4(IFT140):c.1021G>A (p.Ala341Thr) rs200292484 0.00006
NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln) rs147556035 0.00006
NM_014714.4(IFT140):c.1160G>A (p.Gly387Asp) rs781160807 0.00006
NM_014714.4(IFT140):c.1327G>A (p.Asp443Asn) rs538562131 0.00006
NM_014714.4(IFT140):c.337C>T (p.Pro113Ser) rs756324852 0.00006
NM_014714.4(IFT140):c.778C>T (p.Pro260Ser) rs369671309 0.00006
NM_014714.4(IFT140):c.832G>A (p.Gly278Ser) rs141986611 0.00005
NM_014714.4(IFT140):c.1030G>A (p.Asp344Asn) rs201871050 0.00004
NM_014714.4(IFT140):c.1169A>G (p.Lys390Arg) rs369998823 0.00004
NM_014714.4(IFT140):c.1255G>A (p.Ala419Thr) rs769337607 0.00004
NM_014714.4(IFT140):c.1271C>T (p.Pro424Leu) rs780657545 0.00004
NM_014714.4(IFT140):c.329G>A (p.Arg110His) rs371077545 0.00004
NM_014714.4(IFT140):c.526G>A (p.Gly176Ser) rs201849591 0.00004
NM_014714.4(IFT140):c.593G>C (p.Gly198Ala) rs983329531 0.00004
NM_014714.4(IFT140):c.628A>G (p.Met210Val) rs749432087 0.00004
NM_014714.4(IFT140):c.69G>T (p.Trp23Cys) rs139141440 0.00004
NM_014714.4(IFT140):c.903-5T>G rs900599017 0.00004
NM_014714.4(IFT140):c.1145C>T (p.Thr382Met) rs780000949 0.00003
NM_014714.4(IFT140):c.1306G>T (p.Val436Phe) rs764912104 0.00003
NM_014714.4(IFT140):c.1330A>G (p.Met444Val) rs749322722 0.00003
NM_014714.4(IFT140):c.1368C>T (p.Val456=) rs561657958 0.00003
NM_014714.4(IFT140):c.1432+18G>A rs374262499 0.00003
NM_014714.4(IFT140):c.1487C>T (p.Thr496Met) rs764537319 0.00003
NM_014714.4(IFT140):c.215C>T (p.Thr72Met) rs774892063 0.00003
NM_014714.4(IFT140):c.508G>A (p.Ala170Thr) rs145551546 0.00003
NM_014714.4(IFT140):c.601G>A (p.Glu201Lys) rs367721062 0.00003
NM_014714.4(IFT140):c.657G>A (p.Glu219=) rs757028149 0.00003
NM_014714.4(IFT140):c.886G>A (p.Gly296Arg) rs574450870 0.00003
NM_014714.4(IFT140):c.1115A>G (p.Gln372Arg) rs1555491988 0.00002
NM_014714.4(IFT140):c.1155+15G>A rs764275810 0.00002
NM_014714.4(IFT140):c.1242C>G (p.His414Gln) rs142143011 0.00002
NM_014714.4(IFT140):c.127G>A (p.Val43Met) rs150649451 0.00002
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr) rs373106880 0.00002
NM_014714.4(IFT140):c.1381G>A (p.Gly461Arg) rs146049665 0.00002
NM_014714.4(IFT140):c.35C>T (p.Pro12Leu) rs542803163 0.00002
NM_014714.4(IFT140):c.490G>A (p.Glu164Lys) rs559314300 0.00002
NM_014714.4(IFT140):c.56C>T (p.Ser19Leu) rs766380874 0.00002
NM_014714.4(IFT140):c.70C>T (p.His24Tyr) rs939722027 0.00002
NM_014714.4(IFT140):c.773C>T (p.Thr258Met) rs140020318 0.00002
NM_014714.4(IFT140):c.902+3G>A rs776981733 0.00002
NM_014714.4(IFT140):c.-6T>A rs886051771 0.00001
NM_014714.4(IFT140):c.1090G>A (p.Glu364Lys) rs1279456870 0.00001
NM_014714.4(IFT140):c.1096A>G (p.Lys366Glu) rs776044753 0.00001
NM_014714.4(IFT140):c.1124C>T (p.Thr375Ile) rs777159234 0.00001
NM_014714.4(IFT140):c.1133A>G (p.Gln378Arg) rs1470456078 0.00001
NM_014714.4(IFT140):c.1156-6A>G rs769650753 0.00001
NM_014714.4(IFT140):c.1216G>A (p.Glu406Lys) rs755177677 0.00001
NM_014714.4(IFT140):c.1219C>T (p.Arg407Trp) rs754373519 0.00001
NM_014714.4(IFT140):c.1252G>C (p.Ala418Pro) rs770890983 0.00001
NM_014714.4(IFT140):c.1260G>A (p.Met420Ile) rs2034748123 0.00001
NM_014714.4(IFT140):c.1301C>T (p.Thr434Met) rs762293142 0.00001
NM_014714.4(IFT140):c.1321C>T (p.Arg441Cys) rs758986711 0.00001
NM_014714.4(IFT140):c.1322G>A (p.Arg441His) rs776567773 0.00001
NM_014714.4(IFT140):c.1339A>G (p.Ser447Gly) rs1030260747 0.00001
NM_014714.4(IFT140):c.1361A>G (p.Asp454Gly) rs376263938 0.00001
NM_014714.4(IFT140):c.1402G>A (p.Glu468Lys) rs756882000 0.00001
NM_014714.4(IFT140):c.1418C>T (p.Ala473Val) rs765322119 0.00001
NM_014714.4(IFT140):c.1423C>T (p.Arg475Trp) rs771838598 0.00001
NM_014714.4(IFT140):c.1433G>A (p.Gly478Glu) rs1322686700 0.00001
NM_014714.4(IFT140):c.1440C>G (p.Phe480Leu) rs770727161 0.00001
NM_014714.4(IFT140):c.1452G>A (p.Thr484=) rs914258252 0.00001
NM_014714.4(IFT140):c.1469A>G (p.His490Arg) rs537123341 0.00001
NM_014714.4(IFT140):c.147+6T>C rs1387119490 0.00001
NM_014714.4(IFT140):c.1480G>A (p.Val494Ile) rs767571875 0.00001
NM_014714.4(IFT140):c.155G>A (p.Cys52Tyr) rs765500124 0.00001
NM_014714.4(IFT140):c.157G>A (p.Val53Met) rs776811329 0.00001
NM_014714.4(IFT140):c.182C>T (p.Pro61Leu) rs757082667 0.00001
NM_014714.4(IFT140):c.217C>T (p.Arg73Trp) rs201990219 0.00001
NM_014714.4(IFT140):c.243G>T (p.Glu81Asp) rs1199982756 0.00001
NM_014714.4(IFT140):c.257C>T (p.Thr86Met) rs1159315989 0.00001
NM_014714.4(IFT140):c.280G>A (p.Glu94Lys) rs768102481 0.00001
NM_014714.4(IFT140):c.298C>G (p.Leu100Val) rs546498421 0.00001
NM_014714.4(IFT140):c.36G>A (p.Pro12=) rs574028286 0.00001
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp) rs773768491 0.00001
NM_014714.4(IFT140):c.422C>T (p.Thr141Met) rs527332087 0.00001
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) rs755315693 0.00001
NM_014714.4(IFT140):c.488G>T (p.Gly163Val) rs1368823319 0.00001
NM_014714.4(IFT140):c.489C>T (p.Gly163=) rs776597097 0.00001
NM_014714.4(IFT140):c.529G>A (p.Asp177Asn) rs774439512 0.00001
NM_014714.4(IFT140):c.685G>A (p.Ala229Thr) rs555382397 0.00001
NM_014714.4(IFT140):c.740T>C (p.Val247Ala) rs1231656459 0.00001
NM_014714.4(IFT140):c.752A>G (p.Asn251Ser) rs1277927981 0.00001
NM_014714.4(IFT140):c.7C>T (p.Leu3Phe) rs1442341163 0.00001
NM_014714.4(IFT140):c.850G>A (p.Ala284Thr) rs778404277 0.00001
NM_014714.4(IFT140):c.877A>T (p.Met293Leu) rs761441382 0.00001
NM_014714.4(IFT140):c.883G>A (p.Val295Ile) rs762792738 0.00001
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp) rs1330112951 0.00001
NM_014714.4(IFT140):c.-24C>G rs373009406
NM_014714.4(IFT140):c.1001_1003del (p.Lys334_Val335delinsIle)
NM_014714.4(IFT140):c.1006A>C (p.Lys336Gln) rs752956717
NM_014714.4(IFT140):c.1009+15C>T
NM_014714.4(IFT140):c.1009+18G>A
NM_014714.4(IFT140):c.1037G>T (p.Gly346Val)
NM_014714.4(IFT140):c.1042G>C (p.Val348Leu)
NM_014714.4(IFT140):c.1049T>C (p.Met350Thr) rs1188370536
NM_014714.4(IFT140):c.1052G>T (p.Trp351Leu) rs2141840176
NM_014714.4(IFT140):c.1056G>T (p.Arg352Ser) rs750247837
NM_014714.4(IFT140):c.106A>T (p.Ser36Cys)
NM_014714.4(IFT140):c.1081C>T (p.Pro361Ser)
NM_014714.4(IFT140):c.1102A>G (p.Arg368Gly)
NM_014714.4(IFT140):c.1103G>C (p.Arg368Thr) rs765706103
NM_014714.4(IFT140):c.110C>G (p.Thr37Arg) rs1487413546
NM_014714.4(IFT140):c.1118C>A (p.Thr373Asn)
NM_014714.4(IFT140):c.1118C>T (p.Thr373Ile)
NM_014714.4(IFT140):c.1121C>T (p.Pro374Leu) rs2034866707
NM_014714.4(IFT140):c.1135G>C (p.Gly379Arg) rs2034865826
NM_014714.4(IFT140):c.113C>A (p.Thr38Asn) rs747462746
NM_014714.4(IFT140):c.1144A>G (p.Thr382Ala) rs748786377
NM_014714.4(IFT140):c.1187A>T (p.Asn396Ile)
NM_014714.4(IFT140):c.118A>G (p.Thr40Ala) rs1331143723
NM_014714.4(IFT140):c.1218G>T (p.Glu406Asp)
NM_014714.4(IFT140):c.1243C>A (p.Gln415Lys)
NM_014714.4(IFT140):c.1245G>T (p.Gln415His)
NM_014714.4(IFT140):c.1264G>A (p.Val422Ile)
NM_014714.4(IFT140):c.1268C>A (p.Ser423Tyr)
NM_014714.4(IFT140):c.1290C>T (p.Cys430=)
NM_014714.4(IFT140):c.1293C>A (p.Phe431Leu)
NM_014714.4(IFT140):c.1297T>G (p.Ser433Ala)
NM_014714.4(IFT140):c.1334A>G (p.His445Arg) rs2141817075
NM_014714.4(IFT140):c.1357A>C (p.Lys453Gln)
NM_014714.4(IFT140):c.1359G>A (p.Lys453=) rs2034740047
NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr) rs747510464
NM_014714.4(IFT140):c.1369G>T (p.Ala457Ser)
NM_014714.4(IFT140):c.1380C>T (p.Asn460=) rs1339640657
NM_014714.4(IFT140):c.1394C>T (p.Ala465Val)
NM_014714.4(IFT140):c.1405C>G (p.Leu469Val) rs190034269
NM_014714.4(IFT140):c.1406T>A (p.Leu469His) rs924912054
NM_014714.4(IFT140):c.1427G>C (p.Ser476Thr)
NM_014714.4(IFT140):c.1429G>T (p.Ala477Ser) rs2034677396
NM_014714.4(IFT140):c.142G>A (p.Glu48Lys)
NM_014714.4(IFT140):c.1432+5G>A
NM_014714.4(IFT140):c.1437CTT[1] (p.Phe480del)
NM_014714.4(IFT140):c.1445G>A (p.Cys482Tyr) rs1596402406
NM_014714.4(IFT140):c.144G>C (p.Glu48Asp)
NM_014714.4(IFT140):c.1465A>G (p.Met489Val) rs778765501
NM_014714.4(IFT140):c.1468C>A (p.His490Asn)
NM_014714.4(IFT140):c.1483T>G (p.Tyr495Asp) rs2141751528
NM_014714.4(IFT140):c.1486A>G (p.Thr496Ala)
NM_014714.4(IFT140):c.1490T>C (p.Val497Ala) rs2141751314
NM_014714.4(IFT140):c.1498A>G (p.Asn500Asp)
NM_014714.4(IFT140):c.14A>T (p.Tyr5Phe)
NM_014714.4(IFT140):c.1502G>A (p.Arg501Gln)
NM_014714.4(IFT140):c.1514G>A (p.Arg505Gln)
NM_014714.4(IFT140):c.1519T>C (p.Trp507Arg)
NM_014714.4(IFT140):c.1520G>C (p.Trp507Ser)
NM_014714.4(IFT140):c.154T>C (p.Cys52Arg) rs886051770
NM_014714.4(IFT140):c.172G>A (p.Val58Ile)
NM_014714.4(IFT140):c.173T>G (p.Val58Gly)
NM_014714.4(IFT140):c.175G>A (p.Glu59Lys)
NM_014714.4(IFT140):c.177G>C (p.Glu59Asp) rs1431384802
NM_014714.4(IFT140):c.181C>T (p.Pro61Ser) rs886051769
NM_014714.4(IFT140):c.188G>C (p.Arg63Pro) rs765411860
NM_014714.4(IFT140):c.190G>C (p.Val64Leu)
NM_014714.4(IFT140):c.208C>T (p.His70Tyr) rs2142042420
NM_014714.4(IFT140):c.212C>G (p.Pro71Arg)
NM_014714.4(IFT140):c.218G>A (p.Arg73Gln) rs149202904
NM_014714.4(IFT140):c.236G>T (p.Gly79Val)
NM_014714.4(IFT140):c.240G>T (p.Trp80Cys) rs1471379682
NM_014714.4(IFT140):c.244A>G (p.Thr82Ala) rs2035846064
NM_014714.4(IFT140):c.251A>G (p.Glu84Gly) rs755089438
NM_014714.4(IFT140):c.251A>T (p.Glu84Val)
NM_014714.4(IFT140):c.25A>C (p.Ile9Leu)
NM_014714.4(IFT140):c.268A>G (p.Lys90Glu)
NM_014714.4(IFT140):c.290C>T (p.Thr97Met)
NM_014714.4(IFT140):c.295C>T (p.Pro99Ser)
NM_014714.4(IFT140):c.302C>T (p.Thr101Ile)
NM_014714.4(IFT140):c.304C>T (p.His102Tyr) rs1596461586
NM_014714.4(IFT140):c.313G>A (p.Asp105Asn)
NM_014714.4(IFT140):c.315C>G (p.Asp105Glu) rs772739900
NM_014714.4(IFT140):c.316A>G (p.Ile106Val) rs1465706247
NM_014714.4(IFT140):c.325C>T (p.Leu109Phe)
NM_014714.4(IFT140):c.328C>A (p.Arg110Ser) rs140159548
NM_014714.4(IFT140):c.328C>T (p.Arg110Cys) rs140159548
NM_014714.4(IFT140):c.341G>T (p.Ser114Ile)
NM_014714.4(IFT140):c.347A>G (p.Asn116Ser)
NM_014714.4(IFT140):c.347A>T (p.Asn116Ile)
NM_014714.4(IFT140):c.359C>G (p.Ser120Cys) rs1457067377
NM_014714.4(IFT140):c.369+4A>G rs752104483
NM_014714.4(IFT140):c.370-12G>A rs2141917000
NM_014714.4(IFT140):c.398A>C (p.Asp133Ala) rs2141916604
NM_014714.4(IFT140):c.406G>T (p.Gly136Cys) rs2035235540
NM_014714.4(IFT140):c.413T>G (p.Val138Gly)
NM_014714.4(IFT140):c.41C>T (p.Ala14Val) rs2036120849
NM_014714.4(IFT140):c.424C>A (p.Pro142Thr)
NM_014714.4(IFT140):c.438_440del (p.His146_Glu147delinsGln)
NM_014714.4(IFT140):c.454C>G (p.Leu152Val)
NM_014714.4(IFT140):c.458C>T (p.Thr153Met)
NM_014714.4(IFT140):c.461A>G (p.His154Arg)
NM_014714.4(IFT140):c.46_57del (p.Gly16_Ser19del)
NM_014714.4(IFT140):c.473G>A (p.Arg158Gln)
NM_014714.4(IFT140):c.476T>C (p.Leu159Pro)
NM_014714.4(IFT140):c.478C>A (p.Pro160Thr)
NM_014714.4(IFT140):c.481C>A (p.Pro161Thr) rs148462329
NM_014714.4(IFT140):c.481C>G (p.Pro161Ala) rs148462329
NM_014714.4(IFT140):c.481C>T (p.Pro161Ser) rs148462329
NM_014714.4(IFT140):c.482C>A (p.Pro161His) rs191927317
NM_014714.4(IFT140):c.482C>G (p.Pro161Arg)
NM_014714.4(IFT140):c.482C>T (p.Pro161Leu) rs191927317
NM_014714.4(IFT140):c.485C>T (p.Pro162Leu)
NM_014714.4(IFT140):c.494A>G (p.Asp165Gly)
NM_014714.4(IFT140):c.525C>G (p.Ser175Arg) rs772378665
NM_014714.4(IFT140):c.554A>G (p.Asn185Ser) rs975918006
NM_014714.4(IFT140):c.560A>G (p.Lys187Arg) rs756417017
NM_014714.4(IFT140):c.567C>A (p.Ser189Arg) rs2035217954
NM_014714.4(IFT140):c.570T>G (p.Ser190Arg) rs767008075
NM_014714.4(IFT140):c.583C>A (p.Leu195Met)
NM_014714.4(IFT140):c.584T>C (p.Leu195Pro) rs764851284
NM_014714.4(IFT140):c.587A>G (p.Lys196Arg) rs2141912122
NM_014714.4(IFT140):c.609GTT[1] (p.Leu204del)
NM_014714.4(IFT140):c.624T>A (p.Ser208Arg) rs2035215270
NM_014714.4(IFT140):c.637A>C (p.Thr213Pro) rs2141882480
NM_014714.4(IFT140):c.637A>G (p.Thr213Ala) rs2141882480
NM_014714.4(IFT140):c.638C>T (p.Thr213Ile) rs146302646
NM_014714.4(IFT140):c.643C>T (p.His215Tyr)
NM_014714.4(IFT140):c.644A>G (p.His215Arg)
NM_014714.4(IFT140):c.645C>G (p.His215Gln) rs2035078296
NM_014714.4(IFT140):c.652G>A (p.Asp218Asn)
NM_014714.4(IFT140):c.659A>G (p.Lys220Arg)
NM_014714.4(IFT140):c.661G>A (p.Gly221Ser)
NM_014714.4(IFT140):c.676G>T (p.Val226Leu)
NM_014714.4(IFT140):c.683C>G (p.Ser228Cys) rs752659125
NM_014714.4(IFT140):c.700C>A (p.Gln234Lys)
NM_014714.4(IFT140):c.710T>C (p.Phe237Ser)
NM_014714.4(IFT140):c.715A>T (p.Met239Leu)
NM_014714.4(IFT140):c.718_720del (p.Glu240del)
NM_014714.4(IFT140):c.72C>A (p.His24Gln) rs2036118371
NM_014714.4(IFT140):c.73C>G (p.Pro25Ala) rs1408766601
NM_014714.4(IFT140):c.74C>G (p.Pro25Arg)
NM_014714.4(IFT140):c.754C>T (p.Leu252Phe) rs886051768
NM_014714.4(IFT140):c.757C>T (p.Arg253Trp)
NM_014714.4(IFT140):c.76G>C (p.Val26Leu)
NM_014714.4(IFT140):c.772A>T (p.Thr258Ser) rs141254616
NM_014714.4(IFT140):c.775G>A (p.Val259Met) rs1392612759
NM_014714.4(IFT140):c.797AAG[1] (p.Glu267del) rs2035068981
NM_014714.4(IFT140):c.802G>A (p.Val268Met)
NM_014714.4(IFT140):c.810+6T>C rs2035068589
NM_014714.4(IFT140):c.810+9G>T rs886051767
NM_014714.4(IFT140):c.810G>A (p.Lys270=)
NM_014714.4(IFT140):c.811-3C>G
NM_014714.4(IFT140):c.844G>C (p.Asp282His)
NM_014714.4(IFT140):c.849C>G (p.Ile283Met) rs563162000
NM_014714.4(IFT140):c.857T>C (p.Ile286Thr)
NM_014714.4(IFT140):c.864C>T (p.Gly288=)
NM_014714.4(IFT140):c.867C>G (p.Ser289Arg) rs145858131
NM_014714.4(IFT140):c.867C>T (p.Ser289=) rs145858131
NM_014714.4(IFT140):c.878T>A (p.Met293Lys)
NM_014714.4(IFT140):c.881C>T (p.Ala294Val) rs1452513681
NM_014714.4(IFT140):c.882C>A (p.Ala294=)
NM_014714.4(IFT140):c.895G>T (p.Ala299Ser)
NM_014714.4(IFT140):c.903-5T>A
NM_014714.4(IFT140):c.913A>G (p.Ile305Val)
NM_014714.4(IFT140):c.914T>C (p.Ile305Thr)
NM_014714.4(IFT140):c.922G>A (p.Gly308Arg)
NM_014714.4(IFT140):c.927G>C (p.Glu309Asp) rs2141852274
NM_014714.4(IFT140):c.937C>G (p.Leu313Val) rs758052767
NM_014714.4(IFT140):c.94G>A (p.Val32Ile) rs770234866
NM_014714.4(IFT140):c.94G>C (p.Val32Leu)
NM_014714.4(IFT140):c.94G>T (p.Val32Phe)
NM_014714.4(IFT140):c.973G>A (p.Glu325Lys)
NM_014714.4(IFT140):c.974A>G (p.Glu325Gly)
NM_014714.4(IFT140):c.97G>A (p.Ala33Thr)
NM_014714.4(IFT140):c.986G>A (p.Cys329Tyr)
NM_014714.4(IFT140):c.989T>C (p.Val330Ala) rs2034932329
NM_014714.4(IFT140):c.995A>C (p.Tyr332Ser)
NM_014714.4(IFT140):c.997T>G (p.Cys333Gly)

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