ClinVar Miner

List of variants in gene IFT172 reported as uncertain significance for Short-rib thoracic dysplasia 10 with or without polydactyly; Retinitis pigmentosa 71

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 445
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HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.2015G>A (p.Arg672Gln) rs138511988 0.00046
NM_015662.3(IFT172):c.4363C>T (p.Arg1455Trp) rs184506506 0.00036
NM_015662.3(IFT172):c.1523G>A (p.Arg508His) rs144868723 0.00030
NM_015662.3(IFT172):c.1426G>A (p.Gly476Ser) rs147303046 0.00029
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp) rs150938554 0.00025
NM_015662.3(IFT172):c.235A>G (p.Thr79Ala) rs752069515 0.00019
NM_015662.3(IFT172):c.4147G>A (p.Glu1383Lys) rs147668131 0.00019
NM_015662.3(IFT172):c.2976-3C>T rs371847154 0.00017
NM_015662.3(IFT172):c.3400C>T (p.Arg1134Trp) rs139223261 0.00017
NM_015662.3(IFT172):c.3435T>G (p.His1145Gln) rs202111577 0.00017
NM_015662.3(IFT172):c.706C>T (p.Arg236Cys) rs146290725 0.00015
NM_015662.3(IFT172):c.4209G>C (p.Gln1403His) rs149065251 0.00014
NM_015662.3(IFT172):c.590C>T (p.Pro197Leu) rs368373262 0.00014
NM_015662.3(IFT172):c.449G>C (p.Gly150Ala) rs368343162 0.00012
NM_015662.3(IFT172):c.146G>A (p.Arg49Gln) rs151097967 0.00011
NM_015662.3(IFT172):c.1991A>G (p.Asn664Ser) rs199631887 0.00011
NM_015662.3(IFT172):c.2159G>A (p.Arg720His) rs202089120 0.00011
NM_015662.3(IFT172):c.2953G>A (p.Gly985Ser) rs369780709 0.00011
NM_015662.3(IFT172):c.4564G>A (p.Glu1522Lys) rs746340772 0.00011
NM_015662.3(IFT172):c.679C>T (p.His227Tyr) rs142857050 0.00010
NM_015662.3(IFT172):c.145C>T (p.Arg49Trp) rs141043554 0.00009
NM_015662.3(IFT172):c.2122G>A (p.Val708Met) rs140506322 0.00009
NM_015662.3(IFT172):c.2131G>A (p.Ala711Thr) rs144620711 0.00009
NM_015662.3(IFT172):c.247A>G (p.Ile83Val) rs142227350 0.00009
NM_015662.3(IFT172):c.4210G>A (p.Gly1404Ser) rs763238244 0.00009
NM_015662.3(IFT172):c.1331G>A (p.Arg444His) rs751965696 0.00008
NM_015662.3(IFT172):c.1829G>A (p.Arg610Gln) rs144890293 0.00008
NM_015662.3(IFT172):c.623A>G (p.Asn208Ser) rs771817287 0.00007
NM_015662.3(IFT172):c.1445T>G (p.Val482Gly) rs61740250 0.00006
NM_015662.3(IFT172):c.4284C>G (p.Asp1428Glu) rs199502476 0.00006
NM_015662.3(IFT172):c.4307A>C (p.Lys1436Thr) rs377646246 0.00006
NM_015662.3(IFT172):c.4408G>A (p.Gly1470Arg) rs146047876 0.00006
NM_015662.3(IFT172):c.442A>G (p.Ile148Val) rs759861487 0.00006
NM_015662.3(IFT172):c.2036C>T (p.Thr679Ile) rs369169776 0.00005
NM_015662.3(IFT172):c.2351G>A (p.Arg784Gln) rs370097039 0.00005
NM_015662.3(IFT172):c.3372-3C>T rs150011917 0.00005
NM_015662.3(IFT172):c.4436A>G (p.Asn1479Ser) rs757946737 0.00005
NM_015662.3(IFT172):c.4448G>A (p.Arg1483Lys) rs201356906 0.00005
NM_015662.3(IFT172):c.4622A>G (p.Tyr1541Cys) rs138003766 0.00005
NM_015662.3(IFT172):c.1100G>A (p.Arg367His) rs755263642 0.00004
NM_015662.3(IFT172):c.1157G>A (p.Arg386Gln) rs137868356 0.00004
NM_015662.3(IFT172):c.1247A>G (p.Glu416Gly) rs779907319 0.00004
NM_015662.3(IFT172):c.1513C>T (p.Arg505Trp) rs779152335 0.00004
NM_015662.3(IFT172):c.1691G>A (p.Arg564Lys) rs148710037 0.00004
NM_015662.3(IFT172):c.1720G>A (p.Gly574Arg) rs762521619 0.00004
NM_015662.3(IFT172):c.2014C>T (p.Arg672Trp) rs201921339 0.00004
NM_015662.3(IFT172):c.2222G>A (p.Arg741His) rs1011923461 0.00004
NM_015662.3(IFT172):c.2231A>G (p.Tyr744Cys) rs201991482 0.00004
NM_015662.3(IFT172):c.2443-3C>T rs774328767 0.00004
NM_015662.3(IFT172):c.2857C>T (p.Arg953Cys) rs762645007 0.00004
NM_015662.3(IFT172):c.2943G>A (p.Met981Ile) rs779195226 0.00004
NM_015662.3(IFT172):c.4311+5T>C rs756624999 0.00004
NM_015662.3(IFT172):c.4492G>A (p.Glu1498Lys) rs557292146 0.00004
NM_015662.3(IFT172):c.926G>C (p.Gly309Ala) rs749612277 0.00004
NM_015662.3(IFT172):c.972C>G (p.Asn324Lys) rs370874046 0.00004
NM_015662.3(IFT172):c.1056C>G (p.His352Gln) rs145847794 0.00003
NM_015662.3(IFT172):c.1354G>A (p.Gly452Arg) rs866980509 0.00003
NM_015662.3(IFT172):c.1432A>G (p.Asn478Asp) rs374979653 0.00003
NM_015662.3(IFT172):c.1585A>G (p.Met529Val) rs745382278 0.00003
NM_015662.3(IFT172):c.2873A>C (p.His958Pro) rs748358110 0.00003
NM_015662.3(IFT172):c.3030C>A (p.His1010Gln) rs201607202 0.00003
NM_015662.3(IFT172):c.3160G>A (p.Glu1054Lys) rs763117647 0.00003
NM_015662.3(IFT172):c.335C>T (p.Thr112Met) rs191146686 0.00003
NM_015662.3(IFT172):c.336G>A (p.Thr112=) rs1158316267 0.00003
NM_015662.3(IFT172):c.4130C>T (p.Ala1377Val) rs376824384 0.00003
NM_015662.3(IFT172):c.4370G>A (p.Gly1457Asp) rs142312837 0.00003
NM_015662.3(IFT172):c.4598C>T (p.Thr1533Met) rs202181028 0.00003
NM_015662.3(IFT172):c.602A>G (p.Tyr201Cys) rs768237211 0.00003
NM_015662.3(IFT172):c.631G>A (p.Val211Met) rs757478657 0.00003
NM_015662.3(IFT172):c.707G>A (p.Arg236His) rs768290728 0.00003
NM_015662.3(IFT172):c.953G>A (p.Arg318Gln) rs779572697 0.00003
NM_015662.3(IFT172):c.986C>T (p.Thr329Met) rs568736482 0.00003
NM_015662.3(IFT172):c.1005+10A>T rs771534291 0.00002
NM_015662.3(IFT172):c.1009A>G (p.Ile337Val) rs774559020 0.00002
NM_015662.3(IFT172):c.1238A>G (p.Asn413Ser) rs962054597 0.00002
NM_015662.3(IFT172):c.1243G>A (p.Gly415Arg) rs746834072 0.00002
NM_015662.3(IFT172):c.135A>T (p.Glu45Asp) rs1350745027 0.00002
NM_015662.3(IFT172):c.1367A>T (p.Asn456Ile) rs528303561 0.00002
NM_015662.3(IFT172):c.1414G>A (p.Asp472Asn) rs747544155 0.00002
NM_015662.3(IFT172):c.1655T>C (p.Ile552Thr) rs369863525 0.00002
NM_015662.3(IFT172):c.1768T>C (p.Tyr590His) rs1667049048 0.00002
NM_015662.3(IFT172):c.1973G>A (p.Arg658Gln) rs376890875 0.00002
NM_015662.3(IFT172):c.1997T>C (p.Ile666Thr) rs777173046 0.00002
NM_015662.3(IFT172):c.2026G>A (p.Gly676Arg) rs761290683 0.00002
NM_015662.3(IFT172):c.2176G>A (p.Ala726Thr) rs188779949 0.00002
NM_015662.3(IFT172):c.2204C>A (p.Ala735Asp) rs773174861 0.00002
NM_015662.3(IFT172):c.2437G>A (p.Glu813Lys) rs1036729851 0.00002
NM_015662.3(IFT172):c.3053G>A (p.Arg1018His) rs375879787 0.00002
NM_015662.3(IFT172):c.3146A>C (p.Glu1049Ala) rs138139922 0.00002
NM_015662.3(IFT172):c.3197G>A (p.Arg1066Gln) rs759282959 0.00002
NM_015662.3(IFT172):c.328A>T (p.Ile110Phe) rs747883999 0.00002
NM_015662.3(IFT172):c.3989G>A (p.Arg1330His) rs202236985 0.00002
NM_015662.3(IFT172):c.403-16A>G rs367657817 0.00002
NM_015662.3(IFT172):c.406C>T (p.Arg136Cys) rs753783467 0.00002
NM_015662.3(IFT172):c.4108G>A (p.Glu1370Lys) rs779981992 0.00002
NM_015662.3(IFT172):c.412G>A (p.Ala138Thr) rs1461000488 0.00002
NM_015662.3(IFT172):c.4136G>A (p.Arg1379His) rs772212247 0.00002
NM_015662.3(IFT172):c.4364G>A (p.Arg1455Gln) rs747215055 0.00002
NM_015662.3(IFT172):c.4484A>G (p.Asn1495Ser) rs760535770 0.00002
NM_015662.3(IFT172):c.4489G>A (p.Ala1497Thr) rs759653536 0.00002
NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr) rs770733075 0.00002
NM_015662.3(IFT172):c.4627A>G (p.Thr1543Ala) rs769170592 0.00002
NM_015662.3(IFT172):c.529G>A (p.Val177Ile) rs754880269 0.00002
NM_015662.3(IFT172):c.650G>A (p.Arg217Gln) rs777862424 0.00002
NM_015662.3(IFT172):c.673G>C (p.Glu225Gln) rs767999703 0.00002
NM_015662.3(IFT172):c.721C>T (p.Arg241Trp) rs772012378 0.00002
NM_015662.3(IFT172):c.1058A>G (p.Tyr353Cys) rs749207320 0.00001
NM_015662.3(IFT172):c.1099C>T (p.Arg367Cys) rs755816980 0.00001
NM_015662.3(IFT172):c.1108G>A (p.Val370Met) rs1186256423 0.00001
NM_015662.3(IFT172):c.1160T>G (p.Leu387Arg) rs745554539 0.00001
NM_015662.3(IFT172):c.1172C>T (p.Ala391Val) rs781225823 0.00001
NM_015662.3(IFT172):c.1215T>G (p.Asn405Lys) rs143661402 0.00001
NM_015662.3(IFT172):c.1221T>G (p.Asn407Lys) rs1470090185 0.00001
NM_015662.3(IFT172):c.1306A>G (p.Met436Val) rs753911273 0.00001
NM_015662.3(IFT172):c.1352G>A (p.Arg451Gln) rs753504432 0.00001
NM_015662.3(IFT172):c.1355G>A (p.Gly452Glu) rs763724145 0.00001
NM_015662.3(IFT172):c.1417C>G (p.Leu473Val) rs772607856 0.00001
NM_015662.3(IFT172):c.1444G>A (p.Val482Ile) rs771104054 0.00001
NM_015662.3(IFT172):c.1522C>T (p.Arg508Cys) rs371011000 0.00001
NM_015662.3(IFT172):c.1537G>A (p.Asp513Asn) rs959481954 0.00001
NM_015662.3(IFT172):c.1579T>C (p.Ser527Pro) rs771614435 0.00001
NM_015662.3(IFT172):c.159C>A (p.Phe53Leu) rs768058682 0.00001
NM_015662.3(IFT172):c.1609G>A (p.Val537Met) rs868020223 0.00001
NM_015662.3(IFT172):c.1628G>A (p.Arg543Gln) rs755926439 0.00001
NM_015662.3(IFT172):c.167A>C (p.Lys56Thr) rs780205001 0.00001
NM_015662.3(IFT172):c.1694G>A (p.Gly565Asp) rs758357901 0.00001
NM_015662.3(IFT172):c.1715G>A (p.Arg572Gln) rs764302265 0.00001
NM_015662.3(IFT172):c.178A>G (p.Met60Val) rs758377122 0.00001
NM_015662.3(IFT172):c.1880T>C (p.Met627Thr) rs147288623 0.00001
NM_015662.3(IFT172):c.1937+10A>G rs544892086 0.00001
NM_015662.3(IFT172):c.2035A>G (p.Thr679Ala) rs746240262 0.00001
NM_015662.3(IFT172):c.2050G>A (p.Val684Ile) rs1400020833 0.00001
NM_015662.3(IFT172):c.2059C>T (p.Arg687Cys) rs145946722 0.00001
NM_015662.3(IFT172):c.2155C>T (p.His719Tyr) rs144645349 0.00001
NM_015662.3(IFT172):c.2194-3C>T rs906297666 0.00001
NM_015662.3(IFT172):c.2218C>T (p.Arg740Cys) rs187728607 0.00001
NM_015662.3(IFT172):c.2221C>T (p.Arg741Cys) rs984586780 0.00001
NM_015662.3(IFT172):c.2293G>A (p.Asp765Asn) rs367874978 0.00001
NM_015662.3(IFT172):c.2308A>G (p.Ile770Val) rs145926013 0.00001
NM_015662.3(IFT172):c.239A>C (p.Lys80Thr) rs766853711 0.00001
NM_015662.3(IFT172):c.2413G>T (p.Ala805Ser) rs1387032631 0.00001
NM_015662.3(IFT172):c.2452C>T (p.Leu818Phe) rs374015331 0.00001
NM_015662.3(IFT172):c.2498G>A (p.Arg833His) rs756767071 0.00001
NM_015662.3(IFT172):c.2509G>A (p.Ala837Thr) rs752494593 0.00001
NM_015662.3(IFT172):c.263A>G (p.Asn88Ser) rs1443634104 0.00001
NM_015662.3(IFT172):c.2846C>A (p.Thr949Asn) rs1275938087 0.00001
NM_015662.3(IFT172):c.2875A>G (p.Lys959Glu) rs1271431771 0.00001
NM_015662.3(IFT172):c.2897G>C (p.Arg966Thr) rs1009534874 0.00001
NM_015662.3(IFT172):c.2981A>G (p.Tyr994Cys) rs994624984 0.00001
NM_015662.3(IFT172):c.2998C>G (p.Pro1000Ala) rs569281478 0.00001
NM_015662.3(IFT172):c.3052C>T (p.Arg1018Cys) rs1358114348 0.00001
NM_015662.3(IFT172):c.3094C>T (p.His1032Tyr) rs752920969 0.00001
NM_015662.3(IFT172):c.3131G>A (p.Arg1044Gln) rs755990223 0.00001
NM_015662.3(IFT172):c.3178G>A (p.Ala1060Thr) rs560379580 0.00001
NM_015662.3(IFT172):c.3196C>T (p.Arg1066Trp) rs148997142 0.00001
NM_015662.3(IFT172):c.3226A>G (p.Arg1076Gly) rs770486522 0.00001
NM_015662.3(IFT172):c.3244G>A (p.Gly1082Arg) rs1008321384 0.00001
NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser) rs146615936 0.00001
NM_015662.3(IFT172):c.3370T>C (p.Cys1124Arg) rs931407294 0.00001
NM_015662.3(IFT172):c.338G>A (p.Ser113Asn) rs778306652 0.00001
NM_015662.3(IFT172):c.347C>T (p.Thr116Ile) rs751230602 0.00001
NM_015662.3(IFT172):c.4003G>A (p.Val1335Ile) rs755670491 0.00001
NM_015662.3(IFT172):c.4034T>C (p.Ile1345Thr) rs766061673 0.00001
NM_015662.3(IFT172):c.403G>A (p.Val135Ile) rs201476743 0.00001
NM_015662.3(IFT172):c.407G>A (p.Arg136His) rs763923637 0.00001
NM_015662.3(IFT172):c.4180C>G (p.Gln1394Glu) rs963343817 0.00001
NM_015662.3(IFT172):c.4199T>C (p.Leu1400Pro) rs371612970 0.00001
NM_015662.3(IFT172):c.421A>G (p.Lys141Glu) rs760582917 0.00001
NM_015662.3(IFT172):c.4239T>G (p.Asp1413Glu) rs748345321 0.00001
NM_015662.3(IFT172):c.4244T>G (p.Ile1415Arg) rs1665446592 0.00001
NM_015662.3(IFT172):c.4351A>G (p.Thr1451Ala) rs761701917 0.00001
NM_015662.3(IFT172):c.4366G>A (p.Glu1456Lys) rs775476765 0.00001
NM_015662.3(IFT172):c.4417G>A (p.Ala1473Thr) rs749834823 0.00001
NM_015662.3(IFT172):c.4539+6G>A rs745480523 0.00001
NM_015662.3(IFT172):c.4542T>G (p.Cys1514Trp) rs758565766 0.00001
NM_015662.3(IFT172):c.4588G>A (p.Glu1530Lys) rs764604255 0.00001
NM_015662.3(IFT172):c.4637C>T (p.Ala1546Val) rs1290255701 0.00001
NM_015662.3(IFT172):c.4644G>C (p.Gln1548His) rs746827700 0.00001
NM_015662.3(IFT172):c.599C>G (p.Pro200Arg) rs776260844 0.00001
NM_015662.3(IFT172):c.59C>T (p.Thr20Ile) rs751486617 0.00001
NM_015662.3(IFT172):c.5A>C (p.His2Pro) rs781257867 0.00001
NM_015662.3(IFT172):c.610G>T (p.Ala204Ser) rs1437164423 0.00001
NM_015662.3(IFT172):c.649C>T (p.Arg217Trp) rs773661262 0.00001
NM_015662.3(IFT172):c.739G>C (p.Val247Leu) rs144379702 0.00001
NM_015662.3(IFT172):c.785G>T (p.Arg262Met) rs1235295289 0.00001
NM_015662.3(IFT172):c.790C>T (p.Arg264Trp) rs750783565 0.00001
NM_015662.3(IFT172):c.812G>A (p.Arg271Gln) rs375847990 0.00001
NM_015662.3(IFT172):c.860A>G (p.Tyr287Cys) rs766223232 0.00001
NM_015662.3(IFT172):c.8T>G (p.Leu3Trp) rs1246454433 0.00001
NM_015662.3(IFT172):c.909G>A (p.Val303=) rs139685481 0.00001
NM_015662.3(IFT172):c.952C>G (p.Arg318Gly) rs751177541 0.00001
NC_000002.11:g.(?_27670372)_(27670799_?)dup
NC_000002.11:g.(?_27688258)_(27688405_?)del
NM_015662.3(IFT172):c.100T>G (p.Cys34Gly)
NM_015662.3(IFT172):c.1039G>A (p.Val347Met) rs773726175
NM_015662.3(IFT172):c.1039G>C (p.Val347Leu)
NM_015662.3(IFT172):c.1092A>T (p.Gly364=)
NM_015662.3(IFT172):c.1097A>C (p.Glu366Ala) rs1668096577
NM_015662.3(IFT172):c.1099C>A (p.Arg367Ser)
NM_015662.3(IFT172):c.112C>G (p.Arg38Gly)
NM_015662.3(IFT172):c.113G>A (p.Arg38Gln) rs552861632
NM_015662.3(IFT172):c.1156C>T (p.Arg386Trp) rs1668091920
NM_015662.3(IFT172):c.1162A>G (p.Ser388Gly) rs1668091082
NM_015662.3(IFT172):c.1167+3A>G rs2148543961
NM_015662.3(IFT172):c.1167+5G>T rs2148543947
NM_015662.3(IFT172):c.1171G>C (p.Ala391Pro)
NM_015662.3(IFT172):c.1198_1200del (p.Lys400del) rs2148542998
NM_015662.3(IFT172):c.1225T>C (p.Cys409Arg)
NM_015662.3(IFT172):c.124C>A (p.Leu42Met)
NM_015662.3(IFT172):c.1273A>G (p.Asn425Asp) rs145145347
NM_015662.3(IFT172):c.1310_1311insAAA (p.Met436_Asn437insLys)
NM_015662.3(IFT172):c.1325+6C>T rs753078264
NM_015662.3(IFT172):c.1330C>T (p.Arg444Cys) rs1038040281
NM_015662.3(IFT172):c.1340A>G (p.Glu447Gly)
NM_015662.3(IFT172):c.137A>T (p.His46Leu)
NM_015662.3(IFT172):c.1388T>C (p.Ile463Thr)
NM_015662.3(IFT172):c.1393A>G (p.Ile465Val) rs1667974652
NM_015662.3(IFT172):c.1413G>A (p.Val471=) rs2148531759
NM_015662.3(IFT172):c.1435A>G (p.Ile479Val) rs1667635292
NM_015662.3(IFT172):c.1444G>C (p.Val482Leu) rs771104054
NM_015662.3(IFT172):c.1448G>A (p.Ser483Asn) rs1176061294
NM_015662.3(IFT172):c.1460G>A (p.Arg487His) rs368967337
NM_015662.3(IFT172):c.1478T>G (p.Leu493Arg) rs1282056614
NM_015662.3(IFT172):c.1507A>G (p.Arg503Gly)
NM_015662.3(IFT172):c.1514G>A (p.Arg505Gln)
NM_015662.3(IFT172):c.1525-20C>G
NM_015662.3(IFT172):c.153T>G (p.Asp51Glu) rs537341371
NM_015662.3(IFT172):c.1544A>G (p.Glu515Gly)
NM_015662.3(IFT172):c.1559C>A (p.Thr520Lys)
NM_015662.3(IFT172):c.1559C>G (p.Thr520Arg)
NM_015662.3(IFT172):c.1561A>G (p.Met521Val)
NM_015662.3(IFT172):c.1564A>T (p.Ile522Phe) rs1437298206
NM_015662.3(IFT172):c.1570A>G (p.Asn524Asp) rs1667528581
NM_015662.3(IFT172):c.1571A>G (p.Asn524Ser)
NM_015662.3(IFT172):c.1575C>G (p.Phe525Leu) rs2148528504
NM_015662.3(IFT172):c.1577G>T (p.Cys526Phe) rs1667527908
NM_015662.3(IFT172):c.1615G>A (p.Val539Ile) rs1667524518
NM_015662.3(IFT172):c.161C>T (p.Ser54Phe)
NM_015662.3(IFT172):c.1646G>C (p.Trp549Ser)
NM_015662.3(IFT172):c.1666G>A (p.Glu556Lys)
NM_015662.3(IFT172):c.1675A>G (p.Thr559Ala)
NM_015662.3(IFT172):c.1691G>C (p.Arg564Thr)
NM_015662.3(IFT172):c.1692+6T>A rs771744568
NM_015662.3(IFT172):c.1698T>A (p.Asp566Glu) rs765731241
NM_015662.3(IFT172):c.1712A>C (p.Glu571Ala)
NM_015662.3(IFT172):c.1714C>T (p.Arg572Trp)
NM_015662.3(IFT172):c.1718G>A (p.Gly573Asp)
NM_015662.3(IFT172):c.1720G>C (p.Gly574Arg)
NM_015662.3(IFT172):c.1732G>A (p.Glu578Lys)
NM_015662.3(IFT172):c.1794G>C (p.Glu598Asp) rs147885790
NM_015662.3(IFT172):c.1807A>G (p.Ile603Val) rs1442344603
NM_015662.3(IFT172):c.1816G>A (p.Gly606Ser) rs745938799
NM_015662.3(IFT172):c.1823A>G (p.Tyr608Cys)
NM_015662.3(IFT172):c.1829+3G>A rs751267637
NM_015662.3(IFT172):c.1838C>A (p.Ala613Asp)
NM_015662.3(IFT172):c.1849A>G (p.Thr617Ala) rs1403737174
NM_015662.3(IFT172):c.1859T>G (p.Met620Arg)
NM_015662.3(IFT172):c.185A>G (p.Tyr62Cys) rs2148559384
NM_015662.3(IFT172):c.1879A>G (p.Met627Val)
NM_015662.3(IFT172):c.1898A>G (p.Lys633Arg)
NM_015662.3(IFT172):c.1925A>C (p.His642Pro) rs2148515313
NM_015662.3(IFT172):c.1931C>A (p.Ala644Glu) rs371919234
NM_015662.3(IFT172):c.1931C>T (p.Ala644Val) rs371919234
NM_015662.3(IFT172):c.1933G>C (p.Glu645Gln)
NM_015662.3(IFT172):c.1934A>T (p.Glu645Val)
NM_015662.3(IFT172):c.1937+5G>A
NM_015662.3(IFT172):c.1937+6G>A rs1558388446
NM_015662.3(IFT172):c.195_196delinsTT (p.Lys65_Ser66delinsAsnCys) rs2148559359
NM_015662.3(IFT172):c.1993G>A (p.Glu665Lys)
NM_015662.3(IFT172):c.1999G>A (p.Ala667Thr) rs755632444
NM_015662.3(IFT172):c.2005C>G (p.Gln669Glu) rs1666808431
NM_015662.3(IFT172):c.202A>G (p.Met68Val) rs1007588478
NM_015662.3(IFT172):c.2047C>G (p.Gln683Glu)
NM_015662.3(IFT172):c.2049G>C (p.Gln683His) rs780709991
NM_015662.3(IFT172):c.2054G>A (p.Arg685Gln) rs561676433
NM_015662.3(IFT172):c.205G>A (p.Val69Met) rs756299134
NM_015662.3(IFT172):c.2060G>A (p.Arg687His)
NM_015662.3(IFT172):c.2060G>T (p.Arg687Leu) rs145601549
NM_015662.3(IFT172):c.2084A>G (p.Tyr695Cys) rs1666775725
NM_015662.3(IFT172):c.2100G>T (p.Met700Ile)
NM_015662.3(IFT172):c.2129A>C (p.Glu710Ala)
NM_015662.3(IFT172):c.2148G>T (p.Gln716His)
NM_015662.3(IFT172):c.2159G>C (p.Arg720Pro) rs202089120
NM_015662.3(IFT172):c.2193+5C>T rs2148507369
NM_015662.3(IFT172):c.2193+6T>G rs2148507360
NM_015662.3(IFT172):c.2197C>A (p.His733Asn) rs774487712
NM_015662.3(IFT172):c.2210A>G (p.Glu737Gly)
NM_015662.3(IFT172):c.2234A>C (p.Gln745Pro) rs765641043
NM_015662.3(IFT172):c.2236T>G (p.Trp746Gly)
NM_015662.3(IFT172):c.2261A>G (p.Glu754Gly)
NM_015662.3(IFT172):c.2264G>C (p.Arg755Pro) rs78631901
NM_015662.3(IFT172):c.2294A>G (p.Asp765Gly)
NM_015662.3(IFT172):c.2309_2311dup (p.Ile770dup) rs1239784714
NM_015662.3(IFT172):c.2310C>G (p.Ile770Met) rs747166388
NM_015662.3(IFT172):c.2318A>G (p.Tyr773Cys)
NM_015662.3(IFT172):c.2339C>T (p.Ala780Val) rs2148506384
NM_015662.3(IFT172):c.233C>T (p.Ser78Phe)
NM_015662.3(IFT172):c.2365C>G (p.Arg789Gly) rs202024173
NM_015662.3(IFT172):c.2380G>C (p.Ala794Pro)
NM_015662.3(IFT172):c.2387C>G (p.Thr796Arg)
NM_015662.3(IFT172):c.2408C>T (p.Thr803Ile)
NM_015662.3(IFT172):c.2431C>A (p.Leu811Ile) rs933347695
NM_015662.3(IFT172):c.2431C>G (p.Leu811Val) rs933347695
NM_015662.3(IFT172):c.2435A>C (p.Tyr812Ser) rs2148506110
NM_015662.3(IFT172):c.2442+5G>A rs1666641444
NM_015662.3(IFT172):c.244G>T (p.Ala82Ser)
NM_015662.3(IFT172):c.2459A>T (p.Glu820Val) rs1666622337
NM_015662.3(IFT172):c.2463G>T (p.Lys821Asn)
NM_015662.3(IFT172):c.2490G>C (p.Glu830Asp) rs2148505488
NM_015662.3(IFT172):c.2497C>T (p.Arg833Cys)
NM_015662.3(IFT172):c.2503G>A (p.Gly835Ser) rs1474467674
NM_015662.3(IFT172):c.2507A>T (p.Asn836Ile)
NM_015662.3(IFT172):c.2515A>C (p.Met839Leu)
NM_015662.3(IFT172):c.265A>G (p.Ile89Val)
NM_015662.3(IFT172):c.274G>C (p.Val92Leu) rs2148559132
NM_015662.3(IFT172):c.275T>C (p.Val92Ala) rs1306568500
NM_015662.3(IFT172):c.281A>C (p.Lys94Thr) rs1668654872
NM_015662.3(IFT172):c.2839A>G (p.Met947Val) rs774401568
NM_015662.3(IFT172):c.2840T>C (p.Met947Thr)
NM_015662.3(IFT172):c.2845A>G (p.Thr949Ala) rs1666396574
NM_015662.3(IFT172):c.2857C>G (p.Arg953Gly)
NM_015662.3(IFT172):c.2884A>G (p.Met962Val) rs541501287
NM_015662.3(IFT172):c.2891G>A (p.Cys964Tyr)
NM_015662.3(IFT172):c.2905G>C (p.Asp969His) rs1666329493
NM_015662.3(IFT172):c.2915T>A (p.Val972Glu) rs2148498608
NM_015662.3(IFT172):c.2947A>G (p.Lys983Glu)
NM_015662.3(IFT172):c.2962C>T (p.Arg988Cys)
NM_015662.3(IFT172):c.2963G>A (p.Arg988His)
NM_015662.3(IFT172):c.2969C>A (p.Ala990Asp)
NM_015662.3(IFT172):c.297G>T (p.Trp99Cys) rs2148557687
NM_015662.3(IFT172):c.2989G>A (p.Val997Ile)
NM_015662.3(IFT172):c.2994A>C (p.Gln998His)
NM_015662.3(IFT172):c.3001G>C (p.Asp1001His) rs1666300541
NM_015662.3(IFT172):c.3023A>C (p.Lys1008Thr) rs372047259
NM_015662.3(IFT172):c.3023A>G (p.Lys1008Arg)
NM_015662.3(IFT172):c.3044A>G (p.Asp1015Gly) rs1666295604
NM_015662.3(IFT172):c.3071A>G (p.His1024Arg) rs2148497488
NM_015662.3(IFT172):c.3112-19C>G rs1666279699
NM_015662.3(IFT172):c.3112G>A (p.Glu1038Lys)
NM_015662.3(IFT172):c.3121G>A (p.Ala1041Thr)
NM_015662.3(IFT172):c.3153C>G (p.His1051Gln) rs1666273532
NM_015662.3(IFT172):c.3154T>C (p.Tyr1052His)
NM_015662.3(IFT172):c.3160G>C (p.Glu1054Gln) rs763117647
NM_015662.3(IFT172):c.3166C>G (p.Gln1056Glu) rs1666272023
NM_015662.3(IFT172):c.3181A>G (p.Thr1061Ala) rs550525758
NM_015662.3(IFT172):c.3196C>G (p.Arg1066Gly) rs148997142
NM_015662.3(IFT172):c.3202A>T (p.Ser1068Cys) rs1666267648
NM_015662.3(IFT172):c.3205G>A (p.Gly1069Arg) rs1666267219
NM_015662.3(IFT172):c.3250G>T (p.Ala1084Ser)
NM_015662.3(IFT172):c.3257C>T (p.Ala1086Val)
NM_015662.3(IFT172):c.325T>C (p.Phe109Leu) rs542128061
NM_015662.3(IFT172):c.3267C>A (p.His1089Gln)
NM_015662.3(IFT172):c.3307G>T (p.Ala1103Ser)
NM_015662.3(IFT172):c.3313_3327del (p.Arg1105_Lys1109del) rs2148494469
NM_015662.3(IFT172):c.332A>G (p.Gln111Arg)
NM_015662.3(IFT172):c.3341A>T (p.Glu1114Val)
NM_015662.3(IFT172):c.3379G>C (p.Glu1127Gln) rs1158499870
NM_015662.3(IFT172):c.3401G>A (p.Arg1134Gln) rs148624326
NM_015662.3(IFT172):c.340G>A (p.Ala114Thr) rs2148556996
NM_015662.3(IFT172):c.3425C>T (p.Pro1142Leu)
NM_015662.3(IFT172):c.3448A>G (p.Met1150Val) rs769882549
NM_015662.3(IFT172):c.3450G>A (p.Met1150Ile)
NM_015662.3(IFT172):c.3465G>C (p.Glu1155Asp) rs935403723
NM_015662.3(IFT172):c.3466-11_3466-8del rs773373497
NM_015662.3(IFT172):c.3466G>C (p.Gly1156Arg) rs1665983486
NM_015662.3(IFT172):c.3475G>A (p.Glu1159Lys)
NM_015662.3(IFT172):c.3488C>T (p.Ala1163Val)
NM_015662.3(IFT172):c.362C>T (p.Pro121Leu) rs765202929
NM_015662.3(IFT172):c.371A>T (p.Tyr124Phe)
NM_015662.3(IFT172):c.3987A>T (p.Gln1329His) rs768705269
NM_015662.3(IFT172):c.3988C>A (p.Arg1330Ser) rs768990688
NM_015662.3(IFT172):c.4039A>G (p.Lys1347Glu)
NM_015662.3(IFT172):c.4046G>C (p.Ser1349Thr) rs762984875
NM_015662.3(IFT172):c.4050+2dup rs2148478879
NM_015662.3(IFT172):c.4117G>A (p.Glu1373Lys)
NM_015662.3(IFT172):c.4135C>T (p.Arg1379Cys)
NM_015662.3(IFT172):c.4161-11C>T
NM_015662.3(IFT172):c.4163A>G (p.Tyr1388Cys)
NM_015662.3(IFT172):c.4177G>A (p.Asp1393Asn)
NM_015662.3(IFT172):c.4179C>G (p.Asp1393Glu)
NM_015662.3(IFT172):c.4185T>G (p.His1395Gln) rs148360112
NM_015662.3(IFT172):c.4197C>A (p.Phe1399Leu)
NM_015662.3(IFT172):c.4208A>G (p.Gln1403Arg) rs1665458761
NM_015662.3(IFT172):c.4214A>G (p.Lys1405Arg)
NM_015662.3(IFT172):c.4264G>C (p.Val1422Leu)
NM_015662.3(IFT172):c.4279T>C (p.Trp1427Arg) rs1665443434
NM_015662.3(IFT172):c.4282G>A (p.Asp1428Asn) rs1665443007
NM_015662.3(IFT172):c.4288T>G (p.Cys1430Gly)
NM_015662.3(IFT172):c.429T>G (p.Asn143Lys)
NM_015662.3(IFT172):c.4300G>C (p.Ala1434Pro) rs1465201525
NM_015662.3(IFT172):c.4307A>G (p.Lys1436Arg) rs377646246
NM_015662.3(IFT172):c.4311+4C>T
NM_015662.3(IFT172):c.4311+6G>T rs1210994251
NM_015662.3(IFT172):c.4319A>G (p.Lys1440Arg)
NM_015662.3(IFT172):c.4346A>G (p.Tyr1449Cys)
NM_015662.3(IFT172):c.4387T>A (p.Leu1463Met)
NM_015662.3(IFT172):c.4412C>A (p.Ala1471Asp) rs1219587063
NM_015662.3(IFT172):c.4459G>A (p.Asp1487Asn) rs371807689
NM_015662.3(IFT172):c.4464G>A (p.Met1488Ile)
NM_015662.3(IFT172):c.4487G>A (p.Cys1496Tyr) rs149435148
NM_015662.3(IFT172):c.4487G>T (p.Cys1496Phe) rs149435148
NM_015662.3(IFT172):c.44G>T (p.Gly15Val) rs1572838053
NM_015662.3(IFT172):c.4504A>T (p.Ser1502Cys)
NM_015662.3(IFT172):c.4507T>C (p.Trp1503Arg) rs1665288911
NM_015662.3(IFT172):c.4576C>G (p.Pro1526Ala)
NM_015662.3(IFT172):c.4577C>T (p.Pro1526Leu)
NM_015662.3(IFT172):c.4631G>A (p.Arg1544His)
NM_015662.3(IFT172):c.463G>A (p.Val155Met) rs149969430
NM_015662.3(IFT172):c.463G>C (p.Val155Leu) rs149969430
NM_015662.3(IFT172):c.4648G>A (p.Val1550Ile) rs779801761
NM_015662.3(IFT172):c.4656G>T (p.Gln1552His) rs530107456
NM_015662.3(IFT172):c.466G>T (p.Val156Leu) rs1401986067
NM_015662.3(IFT172):c.495A>G (p.Lys165=) rs1202101296
NM_015662.3(IFT172):c.509G>T (p.Gly170Val) rs770113267
NM_015662.3(IFT172):c.518A>G (p.Asp173Gly)
NM_015662.3(IFT172):c.534G>C (p.Arg178Ser)
NM_015662.3(IFT172):c.570+3A>G
NM_015662.3(IFT172):c.571-3T>A
NM_015662.3(IFT172):c.571-3T>C
NM_015662.3(IFT172):c.589C>T (p.Pro197Ser) rs267599319
NM_015662.3(IFT172):c.5A>G (p.His2Arg)
NM_015662.3(IFT172):c.616G>A (p.Ala206Thr)
NM_015662.3(IFT172):c.619A>G (p.Thr207Ala)
NM_015662.3(IFT172):c.622A>G (p.Asn208Asp) rs909930223
NM_015662.3(IFT172):c.663C>G (p.Ala221=) rs2148550253
NM_015662.3(IFT172):c.682A>C (p.Met228Leu)
NM_015662.3(IFT172):c.702T>C (p.Tyr234=)
NM_015662.3(IFT172):c.706C>G (p.Arg236Gly) rs146290725
NM_015662.3(IFT172):c.722G>A (p.Arg241Gln)
NM_015662.3(IFT172):c.748C>G (p.Pro250Ala) rs1013134780
NM_015662.3(IFT172):c.763G>A (p.Val255Ile) rs2148549986
NM_015662.3(IFT172):c.786-6T>G
NM_015662.3(IFT172):c.78G>T (p.Gln26His)
NM_015662.3(IFT172):c.800A>G (p.Asn267Ser)
NM_015662.3(IFT172):c.839C>G (p.Pro280Arg) rs1279126964
NM_015662.3(IFT172):c.854A>G (p.Asn285Ser) rs975683128
NM_015662.3(IFT172):c.887G>A (p.Arg296Gln)
NM_015662.3(IFT172):c.909+11A>G
NM_015662.3(IFT172):c.909+3G>A rs2148547848
NM_015662.3(IFT172):c.911G>A (p.Gly304Asp) rs1553335843
NM_015662.3(IFT172):c.926G>A (p.Gly309Glu) rs749612277
NM_015662.3(IFT172):c.956G>A (p.Arg319Lys) rs1002834084
NM_015662.3(IFT172):c.963T>G (p.Ile321Met)
NM_015662.3(IFT172):c.972C>A (p.Asn324Lys) rs370874046
NM_015662.3(IFT172):c.97G>C (p.Val33Leu) rs2148559931

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