ClinVar Miner

List of variants in gene combination IFT140, LOC105371046 studied for Saldino-Mainzer syndrome

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Gene type:
ClinVar version:
Total variants: 521
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.-17G>C rs1894649 0.44364
NM_014714.4(IFT140):c.148-22A>T rs2236269 0.43860
NM_014714.4(IFT140):c.-31-52T>A rs743963 0.36752
NM_014714.4(IFT140):c.147+109G>A rs7192480 0.23445
NM_014714.4(IFT140):c.635-12G>C rs12447357 0.18304
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile) rs34762152 0.08326
NM_014714.4(IFT140):c.1352C>T (p.Ala451Val) rs8060532 0.02699
NM_014714.4(IFT140):c.492-14G>A rs75359189 0.02409
NM_014714.4(IFT140):c.839G>A (p.Arg280Gln) rs35404373 0.02210
NM_014714.4(IFT140):c.838C>T (p.Arg280Trp) rs8058674 0.01985
NM_014714.4(IFT140):c.322G>A (p.Val108Met) rs146128830 0.00695
NM_014714.4(IFT140):c.1524+3A>G rs149791451 0.00552
NM_014714.4(IFT140):c.492-20C>T rs149012740 0.00273
NM_014714.4(IFT140):c.1524+14C>G rs369481491 0.00241
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013 0.00196
NM_014714.4(IFT140):c.1359+12G>C rs150859038 0.00125
NM_014714.4(IFT140):c.546C>T (p.Asp182=) rs150014480 0.00120
NM_014714.4(IFT140):c.-4C>T rs140403660 0.00112
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln) rs141993139 0.00081
NM_014714.4(IFT140):c.1083C>T (p.Pro361=) rs143014223 0.00077
NM_014714.4(IFT140):c.1084G>A (p.Gly362Arg) rs182052267 0.00061
NM_014714.4(IFT140):c.491+7G>A rs187521755 0.00045
NM_014714.4(IFT140):c.1359+20G>A rs374488263 0.00035
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.1422A>G (p.Ile474Met) rs559293157 0.00027
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.561G>T (p.Lys187Asn) rs139286030 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.1524+8G>A rs369331038 0.00017
NM_014714.4(IFT140):c.1272G>A (p.Pro424=) rs370562505 0.00014
NM_014714.4(IFT140):c.194C>T (p.Ala65Val) rs142257947 0.00014
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) rs145267929 0.00014
NM_014714.4(IFT140):c.1220G>A (p.Arg407Gln) rs151198844 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.1010-19A>G rs369000362 0.00010
NM_014714.4(IFT140):c.1146G>A (p.Thr382=) rs200975046 0.00010
NM_014714.4(IFT140):c.128T>C (p.Val43Ala) rs372148301 0.00010
NM_014714.4(IFT140):c.768G>A (p.Leu256=) rs775181670 0.00010
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.210C>T (p.His70=) rs145160997 0.00008
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg) rs201188361 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.1428T>A (p.Ser476Arg) rs771030841 0.00007
NM_014714.4(IFT140):c.1010-1G>A rs770185023 0.00006
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.1377G>A (p.Trp459Ter) rs140039128 0.00006
NM_014714.4(IFT140):c.1401C>T (p.Phe467=) rs368477699 0.00006
NM_014714.4(IFT140):c.201G>T (p.Leu67=) rs138991209 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.811-16T>C rs367948949 0.00006
NM_014714.4(IFT140):c.903-17G>T rs377542255 0.00006
NM_014714.4(IFT140):c.920G>A (p.Arg307Gln) rs780666037 0.00006
NM_014714.4(IFT140):c.1200C>T (p.Ser400=) rs778020037 0.00005
NM_014714.4(IFT140):c.1304G>A (p.Gly435Glu) rs201033016 0.00005
NM_014714.4(IFT140):c.1520G>T (p.Trp507Leu) rs755959856 0.00005
NM_014714.4(IFT140):c.594G>A (p.Gly198=) rs754896534 0.00005
NM_014714.4(IFT140):c.634+12T>C rs747805287 0.00005
NM_014714.4(IFT140):c.695C>T (p.Thr232Met) rs373258796 0.00005
NM_014714.4(IFT140):c.832G>A (p.Gly278Ser) rs141986611 0.00005
NM_014714.4(IFT140):c.1020C>T (p.Ala340=) rs777539406 0.00004
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.1310C>T (p.Ala437Val) rs199881467 0.00004
NM_014714.4(IFT140):c.1509A>G (p.Gln503=) rs139385840 0.00004
NM_014714.4(IFT140):c.1513C>T (p.Arg505Ter) rs1257804746 0.00004
NM_014714.4(IFT140):c.174C>T (p.Val58=) rs769612994 0.00004
NM_014714.4(IFT140):c.183G>A (p.Pro61=) rs751515057 0.00004
NM_014714.4(IFT140):c.189G>A (p.Arg63=) rs759832443 0.00004
NM_014714.4(IFT140):c.291G>A (p.Thr97=) rs774795976 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.708G>A (p.Leu236=) rs200076064 0.00004
NM_014714.4(IFT140):c.811-10C>T rs781747985 0.00004
NM_014714.4(IFT140):c.811-19C>T rs568239635 0.00004
NM_014714.4(IFT140):c.811-7C>T rs751897595 0.00004
NM_014714.4(IFT140):c.903-5T>G rs900599017 0.00004
NM_014714.4(IFT140):c.1126G>A (p.Glu376Lys) rs200349591 0.00003
NM_014714.4(IFT140):c.1145C>T (p.Thr382Met) rs780000949 0.00003
NM_014714.4(IFT140):c.126C>T (p.Ser42=) rs753351192 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.1359+9C>T rs371341236 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.1479C>T (p.Asn493=) rs373191298 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.438C>T (p.His146=) rs564988341 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.684C>T (p.Ser228=) rs765361599 0.00003
NM_014714.4(IFT140):c.696G>A (p.Thr232=) rs144087201 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.1147C>T (p.Gln383Ter) rs1206753537 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.1359+10G>A rs765870382 0.00002
NM_014714.4(IFT140):c.1359+15G>A rs371515559 0.00002
NM_014714.4(IFT140):c.1381G>A (p.Gly461Arg) rs146049665 0.00002
NM_014714.4(IFT140):c.156C>T (p.Cys52=) rs759512538 0.00002
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) rs772757427 0.00002
NM_014714.4(IFT140):c.312C>T (p.Ala104=) rs138263672 0.00002
NM_014714.4(IFT140):c.357G>C (p.Leu119=) rs2035838651 0.00002
NM_014714.4(IFT140):c.35C>T (p.Pro12Leu) rs542803163 0.00002
NM_014714.4(IFT140):c.369+13G>A rs775756737 0.00002
NM_014714.4(IFT140):c.369+14C>T rs766013600 0.00002
NM_014714.4(IFT140):c.423G>A (p.Thr141=) rs769704872 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.600C>T (p.His200=) rs371783984 0.00002
NM_014714.4(IFT140):c.70C>T (p.His24Tyr) rs939722027 0.00002
NM_014714.4(IFT140):c.731C>A (p.Ala244Glu) rs758547276 0.00002
NM_014714.4(IFT140):c.773C>T (p.Thr258Met) rs140020318 0.00002
NM_014714.4(IFT140):c.819G>A (p.Leu273=) rs763445046 0.00002
NM_014714.4(IFT140):c.822C>T (p.Ser274=) rs200604057 0.00002
NM_014714.4(IFT140):c.882C>T (p.Ala294=) rs768675467 0.00002
NM_014714.4(IFT140):c.902+3G>A rs776981733 0.00002
NM_014714.4(IFT140):c.998G>A (p.Cys333Tyr) rs773372123 0.00002
NM_014714.4(IFT140):c.-6T>A rs886051771 0.00001
NM_014714.4(IFT140):c.1009+11C>T rs761927308 0.00001
NM_014714.4(IFT140):c.1009+19G>A rs1193125251 0.00001
NM_014714.4(IFT140):c.1029C>T (p.Thr343=) rs556379159 0.00001
NM_014714.4(IFT140):c.1072C>T (p.Leu358=) rs2034869421 0.00001
NM_014714.4(IFT140):c.1077C>T (p.Gly359=) rs757481448 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.1125C>T (p.Thr375=) rs771792178 0.00001
NM_014714.4(IFT140):c.1133A>G (p.Gln378Arg) rs1470456078 0.00001
NM_014714.4(IFT140):c.1155+8C>T rs757107689 0.00001
NM_014714.4(IFT140):c.1156-18T>C rs1433160902 0.00001
NM_014714.4(IFT140):c.1156-6A>G rs769650753 0.00001
NM_014714.4(IFT140):c.1156-8A>C rs1468612818 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.1294C>T (p.Leu432=) rs1482041898 0.00001
NM_014714.4(IFT140):c.1301C>T (p.Thr434Met) rs762293142 0.00001
NM_014714.4(IFT140):c.1302G>A (p.Thr434=) rs1045923210 0.00001
NM_014714.4(IFT140):c.1319T>C (p.Leu440Pro) rs1555491448 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.1326C>T (p.Thr442=) rs748014543 0.00001
NM_014714.4(IFT140):c.1338C>T (p.Ile446=) rs781745982 0.00001
NM_014714.4(IFT140):c.1339A>G (p.Ser447Gly) rs1030260747 0.00001
NM_014714.4(IFT140):c.1359+17C>T rs767520111 0.00001
NM_014714.4(IFT140):c.1361A>G (p.Asp454Gly) rs376263938 0.00001
NM_014714.4(IFT140):c.1365T>C (p.Ala455=) rs771279803 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.1424G>A (p.Arg475Gln) rs776789813 0.00001
NM_014714.4(IFT140):c.1425G>C (p.Arg475=) rs1312262491 0.00001
NM_014714.4(IFT140):c.1433-15C>T rs749683523 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.1451C>T (p.Thr484Met) rs758052634 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.1501C>T (p.Arg501Ter) rs1424099914 0.00001
NM_014714.4(IFT140):c.1524+17C>G rs764602004 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.321C>T (p.Thr107=) rs374346968 0.00001
NM_014714.4(IFT140):c.352C>T (p.Leu118=) rs201381885 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.409C>T (p.Arg137Ter) rs762817061 0.00001
NM_014714.4(IFT140):c.422C>T (p.Thr141Met) rs527332087 0.00001
NM_014714.4(IFT140):c.441G>A (p.Glu147=) rs62040002 0.00001
NM_014714.4(IFT140):c.454C>T (p.Leu152Phe) rs1403669200 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.609G>A (p.Leu203=) rs1032107314 0.00001
NM_014714.4(IFT140):c.621C>T (p.Val207=) rs1257821160 0.00001
NM_014714.4(IFT140):c.634+5G>A rs1323647622 0.00001
NM_014714.4(IFT140):c.635-20G>A rs770147783 0.00001
NM_014714.4(IFT140):c.642G>A (p.Val214=) rs765268078 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.849C>T (p.Ile283=) rs563162000 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.885C>T (p.Val295=) rs775444392 0.00001
NM_014714.4(IFT140):c.900C>T (p.Leu300=) rs1282920198 0.00001
NM_014714.4(IFT140):c.903-13T>G rs748649022 0.00001
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp) rs1330112951 0.00001
NC_000016.10:g.1602592del rs2035852852
NM_014714.3(IFT140):c.(?_-1)_(147+1_148-1)del
NM_014714.4(IFT140):c.-24C>G rs373009406
NM_014714.4(IFT140):c.1006A>C (p.Lys336Gln) rs752956717
NM_014714.4(IFT140):c.1009+10C>T
NM_014714.4(IFT140):c.1009+16C>A
NM_014714.4(IFT140):c.1009+17T>C
NM_014714.4(IFT140):c.1009+17T>G
NM_014714.4(IFT140):c.1009+1G>T
NM_014714.4(IFT140):c.1010-10C>A
NM_014714.4(IFT140):c.1010-15T>G
NM_014714.4(IFT140):c.102C>T (p.Tyr34=)
NM_014714.4(IFT140):c.1035A>G (p.Arg345=)
NM_014714.4(IFT140):c.1037G>T (p.Gly346Val)
NM_014714.4(IFT140):c.1038G>C (p.Gly346=)
NM_014714.4(IFT140):c.1039C>T (p.Arg347Ter) rs1166261279
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.1055G>A (p.Arg352Lys)
NM_014714.4(IFT140):c.1056G>T (p.Arg352Ser) rs750247837
NM_014714.4(IFT140):c.106A>T (p.Ser36Cys)
NM_014714.4(IFT140):c.1073_1083del (p.Leu358fs)
NM_014714.4(IFT140):c.1081C>T (p.Pro361Ser)
NM_014714.4(IFT140):c.1089A>G (p.Ala363=)
NM_014714.4(IFT140):c.1103G>C (p.Arg368Thr) rs765706103
NM_014714.4(IFT140):c.1104G>A (p.Arg368=) rs2141839599
NM_014714.4(IFT140):c.110C>G (p.Thr37Arg) rs1487413546
NM_014714.4(IFT140):c.1114del (p.Gln372fs)
NM_014714.4(IFT140):c.1118C>T (p.Thr373Ile)
NM_014714.4(IFT140):c.1119C>T (p.Thr373=)
NM_014714.4(IFT140):c.1121C>T (p.Pro374Leu) rs2034866707
NM_014714.4(IFT140):c.1125C>G (p.Thr375=)
NM_014714.4(IFT140):c.1134A>G (p.Gln378=)
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.1155+18G>A rs2034862936
NM_014714.4(IFT140):c.1156-11T>C
NM_014714.4(IFT140):c.1156-19T>C
NM_014714.4(IFT140):c.1167G>A (p.Arg389=)
NM_014714.4(IFT140):c.1167del (p.Lys390fs) rs1085307074
NM_014714.4(IFT140):c.1177C>T (p.Leu393=)
NM_014714.4(IFT140):c.1187A>T (p.Asn396Ile)
NM_014714.4(IFT140):c.118A>G (p.Thr40Ala) rs1331143723
NM_014714.4(IFT140):c.1191C>T (p.Ser397=)
NM_014714.4(IFT140):c.1203G>A (p.Val401=)
NM_014714.4(IFT140):c.1215C>T (p.Ser405=) rs778865722
NM_014714.4(IFT140):c.1221G>A (p.Arg407=)
NM_014714.4(IFT140):c.1221G>C (p.Arg407=)
NM_014714.4(IFT140):c.1243C>A (p.Gln415Lys)
NM_014714.4(IFT140):c.1251G>A (p.Val417=) rs1011320736
NM_014714.4(IFT140):c.1268C>A (p.Ser423Tyr)
NM_014714.4(IFT140):c.1293C>A (p.Phe431Leu)
NM_014714.4(IFT140):c.1296G>A (p.Leu432=) rs2141817626
NM_014714.4(IFT140):c.1297T>G (p.Ser433Ala)
NM_014714.4(IFT140):c.1299C>T (p.Ser433=)
NM_014714.4(IFT140):c.1318C>T (p.Leu440=)
NM_014714.4(IFT140):c.1334A>G (p.His445Arg) rs2141817075
NM_014714.4(IFT140):c.1346del (p.Val449fs)
NM_014714.4(IFT140):c.1359+13G>A
NM_014714.4(IFT140):c.1359+1G>A rs2034739931
NM_014714.4(IFT140):c.1359G>A (p.Lys453=) rs2034740047
NM_014714.4(IFT140):c.1360-13T>C
NM_014714.4(IFT140):c.1362T>C (p.Asp454=)
NM_014714.4(IFT140):c.1369G>A (p.Ala457Thr) rs747510464
NM_014714.4(IFT140):c.1371A>G (p.Ala457=)
NM_014714.4(IFT140):c.1380C>T (p.Asn460=) rs1339640657
NM_014714.4(IFT140):c.1380del (p.Asn460fs) rs431905522
NM_014714.4(IFT140):c.1383A>C (p.Gly461=)
NM_014714.4(IFT140):c.1394C>T (p.Ala465Val)
NM_014714.4(IFT140):c.1404G>A (p.Glu468=)
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.1428T>C (p.Ser476=) rs771030841
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+17C>T
NM_014714.4(IFT140):c.1432+18G>T
NM_014714.4(IFT140):c.1432+20A>G
NM_014714.4(IFT140):c.1432+5G>A
NM_014714.4(IFT140):c.1432+8C>A rs1470310323
NM_014714.4(IFT140):c.1433-11T>G
NM_014714.4(IFT140):c.1433-14G>A
NM_014714.4(IFT140):c.1433-8C>A rs2034521408
NM_014714.4(IFT140):c.1445G>A (p.Cys482Tyr) rs1596402406
NM_014714.4(IFT140):c.1465A>G (p.Met489Val) rs778765501
NM_014714.4(IFT140):c.146_147+2del rs2142099151
NM_014714.4(IFT140):c.147+13A>G
NM_014714.4(IFT140):c.147+2T>G
NM_014714.4(IFT140):c.148-14C>G
NM_014714.4(IFT140):c.148-16_148-15delinsGC rs2142043610
NM_014714.4(IFT140):c.148-17C>T
NM_014714.4(IFT140):c.148-2A>G rs775682083
NM_014714.4(IFT140):c.148-8C>A rs2142043483
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.1491G>A (p.Val497=)
NM_014714.4(IFT140):c.1498A>G (p.Asn500Asp)
NM_014714.4(IFT140):c.14A>T (p.Tyr5Phe)
NM_014714.4(IFT140):c.1501C>A (p.Arg501=)
NM_014714.4(IFT140):c.1502G>A (p.Arg501Gln)
NM_014714.4(IFT140):c.150G>T (p.Gly50=) rs1257577001
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.1524+16A>G
NM_014714.4(IFT140):c.1524+19G>A
NM_014714.4(IFT140):c.154T>C (p.Cys52Arg) rs886051770
NM_014714.4(IFT140):c.157_160del (p.Val53fs)
NM_014714.4(IFT140):c.169del (p.His57fs)
NM_014714.4(IFT140):c.171C>T (p.His57=) rs141882340
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.178A>C (p.Arg60=) rs2142042835
NM_014714.4(IFT140):c.181C>T (p.Pro61Ser) rs886051769
NM_014714.4(IFT140):c.188G>A (p.Arg63Gln)
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.213G>A (p.Pro71=)
NM_014714.4(IFT140):c.217_218del (p.Arg73fs) rs2035847573
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>A (p.Trp80Ter) rs1471379682
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.255G>A (p.Val85=)
NM_014714.4(IFT140):c.258G>A (p.Thr86=) rs766569165
NM_014714.4(IFT140):c.25A>C (p.Ile9Leu)
NM_014714.4(IFT140):c.261G>A (p.Val87=)
NM_014714.4(IFT140):c.295C>T (p.Pro99Ser)
NM_014714.4(IFT140):c.2T>C (p.Met1Thr)
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.345A>G (p.Gly115=)
NM_014714.4(IFT140):c.347A>G (p.Asn116Ser)
NM_014714.4(IFT140):c.359C>G (p.Ser120Cys) rs1457067377
NM_014714.4(IFT140):c.369+11_369+12del
NM_014714.4(IFT140):c.369+15G>A
NM_014714.4(IFT140):c.369+16C>A
NM_014714.4(IFT140):c.369+20A>G
NM_014714.4(IFT140):c.369+4A>G rs752104483
NM_014714.4(IFT140):c.370-10G>A
NM_014714.4(IFT140):c.370-12G>A rs2141917000
NM_014714.4(IFT140):c.370-20G>A rs200779129
NM_014714.4(IFT140):c.370-20G>C rs200779129
NM_014714.4(IFT140):c.370-3_370-1delinsAA rs2035236903
NM_014714.4(IFT140):c.378del (p.Leu127fs)
NM_014714.4(IFT140):c.382C>G (p.Leu128Val)
NM_014714.4(IFT140):c.387G>A (p.Leu129=) rs369420968
NM_014714.4(IFT140):c.398A>C (p.Asp133Ala) rs2141916604
NM_014714.4(IFT140):c.405G>A (p.Arg135=)
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.420G>A (p.Gly140=)
NM_014714.4(IFT140):c.435A>G (p.Lys145=)
NM_014714.4(IFT140):c.438_440del (p.His146_Glu147delinsGln)
NM_014714.4(IFT140):c.454C>G (p.Leu152Val)
NM_014714.4(IFT140):c.456C>T (p.Leu152=)
NM_014714.4(IFT140):c.459G>A (p.Thr153=) rs61739554
NM_014714.4(IFT140):c.459G>T (p.Thr153=) rs61739554
NM_014714.4(IFT140):c.46_57del (p.Gly16_Ser19del)
NM_014714.4(IFT140):c.473G>A (p.Arg158Gln)
NM_014714.4(IFT140):c.474G>C (p.Arg158=) rs145287241
NM_014714.4(IFT140):c.474G>T (p.Arg158=) rs145287241
NM_014714.4(IFT140):c.476T>C (p.Leu159Pro)
NM_014714.4(IFT140):c.478C>A (p.Pro160Thr)
NM_014714.4(IFT140):c.480C>A (p.Pro160=)
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.482dup (p.Pro162fs) rs763737398
NM_014714.4(IFT140):c.490G>T (p.Glu164Ter) rs559314300
NM_014714.4(IFT140):c.491+10G>A
NM_014714.4(IFT140):c.491+11G>T
NM_014714.4(IFT140):c.491+16G>A
NM_014714.4(IFT140):c.492-15C>G
NM_014714.4(IFT140):c.492-19G>A
NM_014714.4(IFT140):c.505T>C (p.Leu169=)
NM_014714.4(IFT140):c.525C>G (p.Ser175Arg) rs772378665
NM_014714.4(IFT140):c.525C>T (p.Ser175=) rs772378665
NM_014714.4(IFT140):c.54C>G (p.Pro18=)
NM_014714.4(IFT140):c.54del (p.Ser19fs) rs2142100542
NM_014714.4(IFT140):c.554A>G (p.Asn185Ser) rs975918006
NM_014714.4(IFT140):c.558G>A (p.Trp186Ter) rs2035218747
NM_014714.4(IFT140):c.560A>G (p.Lys187Arg) rs756417017
NM_014714.4(IFT140):c.565del (p.Ser189fs)
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.634+13G>C
NM_014714.4(IFT140):c.634+9C>G
NM_014714.4(IFT140):c.635-12G>A rs12447357
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.644A>G (p.His215Arg)
NM_014714.4(IFT140):c.645C>G (p.His215Gln) rs2035078296
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.678G>C (p.Val226=) rs1270248004
NM_014714.4(IFT140):c.681G>A (p.Val227=)
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.724A>C (p.Arg242=)
NM_014714.4(IFT140):c.72C>A (p.His24Gln) rs2036118371
NM_014714.4(IFT140):c.732A>C (p.Ala244=)
NM_014714.4(IFT140):c.73C>G (p.Pro25Ala) rs1408766601
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.774G>A (p.Thr258=) rs746955795
NM_014714.4(IFT140):c.775G>A (p.Val259Met) rs1392612759
NM_014714.4(IFT140):c.78C>G (p.Val26=)
NM_014714.4(IFT140):c.792A>G (p.Lys264=)
NM_014714.4(IFT140):c.797AAG[1] (p.Glu267del) rs2035068981
NM_014714.4(IFT140):c.810+14G>A
NM_014714.4(IFT140):c.810+6T>C rs2035068589
NM_014714.4(IFT140):c.810+7G>A
NM_014714.4(IFT140):c.810+9G>T rs886051767
NM_014714.4(IFT140):c.810G>A (p.Lys270=)
NM_014714.4(IFT140):c.811-11dup rs2034984327
NM_014714.4(IFT140):c.811-18G>A rs371769718
NM_014714.4(IFT140):c.811-2A>G
NM_014714.4(IFT140):c.816G>A (p.Lys272=)
NM_014714.4(IFT140):c.831C>T (p.Thr277=)
NM_014714.4(IFT140):c.836G>A (p.Arg279His) rs4786350
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) rs4786350
NM_014714.4(IFT140):c.844G>C (p.Asp282His)
NM_014714.4(IFT140):c.849C>G (p.Ile283Met) rs563162000
NM_014714.4(IFT140):c.857_860del (p.Ile286fs) rs431905506
NM_014714.4(IFT140):c.864C>A (p.Gly288=)
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.873C>T (p.Leu291=)
NM_014714.4(IFT140):c.874G>A (p.Val292Met) rs431905521
NM_014714.4(IFT140):c.881C>T (p.Ala294Val) rs1452513681
NM_014714.4(IFT140):c.886G>T (p.Gly296Trp) rs574450870
NM_014714.4(IFT140):c.889G>T (p.Glu297Ter)
NM_014714.4(IFT140):c.895G>T (p.Ala299Ser)
NM_014714.4(IFT140):c.903-1G>A rs1567407044
NM_014714.4(IFT140):c.903-5T>A
NM_014714.4(IFT140):c.903-8T>C
NM_014714.4(IFT140):c.903-9C>T rs373647468
NM_014714.4(IFT140):c.910del (p.Asp304fs)
NM_014714.4(IFT140):c.912C>T (p.Asp304=)
NM_014714.4(IFT140):c.913A>G (p.Ile305Val)
NM_014714.4(IFT140):c.914T>C (p.Ile305Thr)
NM_014714.4(IFT140):c.919C>T (p.Arg307Ter) rs1307461796
NM_014714.4(IFT140):c.922G>A (p.Gly308Arg)
NM_014714.4(IFT140):c.927G>C (p.Glu309Asp) rs2141852274
NM_014714.4(IFT140):c.932A>G (p.Tyr311Cys) rs387907193
NM_014714.4(IFT140):c.937C>G (p.Leu313Val) rs758052767
NM_014714.4(IFT140):c.939G>C (p.Leu313=)
NM_014714.4(IFT140):c.945A>G (p.Pro315=)
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.951G>A (p.Glu317=) rs2141851936
NM_014714.4(IFT140):c.973G>A (p.Glu325Lys)
NM_014714.4(IFT140):c.974A>G (p.Glu325Gly)
NM_014714.4(IFT140):c.975G>A (p.Glu325=) rs1330112951
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.997T>G (p.Cys333Gly)
NM_014714.4(IFT140):c.9C>G (p.Leu3=)

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.