ClinVar Miner

List of variants in gene IFT172 reported as likely benign for perceptual disorders

Included ClinVar conditions (765):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 505
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HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.337-12C>T rs79529534 0.02365
NM_015662.3(IFT172):c.571-15C>G rs75809198 0.01015
NM_015662.3(IFT172):c.1338T>C (p.Asn446=) rs61743327 0.00780
NM_015662.3(IFT172):c.4272G>A (p.Gln1424=) rs147850047 0.00526
NM_015662.3(IFT172):c.4659+16T>C rs143060452 0.00514
NM_015662.3(IFT172):c.3073C>G (p.Pro1025Ala) rs61747068 0.00152
NM_015662.3(IFT172):c.2443-19A>G rs199907803 0.00101
NM_015662.3(IFT172):c.4274G>A (p.Gly1425Asp) rs139560074 0.00099
NM_015662.3(IFT172):c.2264G>A (p.Arg755Gln) rs78631901 0.00083
NM_015662.3(IFT172):c.3186G>A (p.Val1062=) rs143922405 0.00078
NM_015662.3(IFT172):c.899G>A (p.Arg300Gln) rs146332658 0.00068
NM_015662.3(IFT172):c.786-12A>G rs373665754 0.00061
NM_015662.3(IFT172):c.2015G>A (p.Arg672Gln) rs138511988 0.00046
NM_015662.3(IFT172):c.2158C>T (p.Arg720Cys) rs147744868 0.00046
NM_015662.3(IFT172):c.2023-15C>A rs377630264 0.00043
NM_015662.3(IFT172):c.4363C>T (p.Arg1455Trp) rs184506506 0.00036
NM_015662.3(IFT172):c.3005T>A (p.Leu1002His) rs369466577 0.00031
NM_015662.3(IFT172):c.1523G>A (p.Arg508His) rs144868723 0.00030
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp) rs145541911 0.00030
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu) rs367930028 0.00026
NM_015662.3(IFT172):c.258T>C (p.Thr86=) rs369061009 0.00026
NM_015662.3(IFT172):c.2949G>A (p.Lys983=) rs141970363 0.00026
NM_015662.3(IFT172):c.987G>A (p.Thr329=) rs376714689 0.00026
NM_015662.3(IFT172):c.291A>C (p.Glu97Asp) rs189236939 0.00025
NM_015662.3(IFT172):c.4290C>T (p.Cys1430=) rs551376007 0.00025
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp) rs150938554 0.00025
NM_015662.3(IFT172):c.2193+10T>A rs368782783 0.00024
NM_015662.3(IFT172):c.3952-19C>T rs367962098 0.00024
NM_015662.3(IFT172):c.1426G>A (p.Gly476Ser) rs147303046 0.00022
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp) rs137906877 0.00021
NM_015662.3(IFT172):c.2521+11C>T rs373403495 0.00020
NM_015662.3(IFT172):c.792G>A (p.Arg264=) rs138730915 0.00020
NM_015662.3(IFT172):c.235A>G (p.Thr79Ala) rs752069515 0.00019
NM_015662.3(IFT172):c.2436C>T (p.Tyr812=) rs143142494 0.00016
NM_015662.3(IFT172):c.98T>C (p.Val33Ala) rs200884031 0.00016
NM_015662.3(IFT172):c.1524+20C>T rs201838139 0.00014
NM_015662.3(IFT172):c.3041A>T (p.Asp1014Val) rs200961120 0.00014
NM_015662.3(IFT172):c.590C>T (p.Pro197Leu) rs368373262 0.00014
NM_015662.3(IFT172):c.2877+16G>A rs371011283 0.00013
NM_015662.3(IFT172):c.184-10A>T rs546122503 0.00012
NM_015662.3(IFT172):c.2343A>G (p.Lys781=) rs374062028 0.00012
NM_015662.3(IFT172):c.2442+16T>A rs189737111 0.00012
NM_015662.3(IFT172):c.39+13G>A rs747789616 0.00012
NM_015662.3(IFT172):c.449G>C (p.Gly150Ala) rs368343162 0.00012
NM_015662.3(IFT172):c.918A>G (p.Leu306=) rs746380795 0.00012
NM_015662.3(IFT172):c.2878-13T>C rs374938451 0.00011
NM_015662.3(IFT172):c.4564G>A (p.Glu1522Lys) rs746340772 0.00011
NM_015662.3(IFT172):c.337-5C>T rs141086523 0.00010
NM_015662.3(IFT172):c.3426C>T (p.Pro1142=) rs369463180 0.00010
NM_015662.3(IFT172):c.1006-13G>C rs753018358 0.00009
NM_015662.3(IFT172):c.1608C>T (p.Asp536=) rs749114212 0.00009
NM_015662.3(IFT172):c.337-4G>A rs374002706 0.00009
NM_015662.3(IFT172):c.1983T>A (p.His661Gln) rs150739354 0.00008
NM_015662.3(IFT172):c.2103C>A (p.Ile701=) rs138604630 0.00008
NM_015662.3(IFT172):c.2366G>A (p.Arg789Gln) rs148237432 0.00008
NM_015662.3(IFT172):c.732C>T (p.Thr244=) rs778790509 0.00008
NM_015662.3(IFT172):c.1525-19C>T rs764463970 0.00007
NM_015662.3(IFT172):c.4491C>T (p.Ala1497=) rs774451726 0.00007
NM_015662.3(IFT172):c.1006-10C>T rs545781319 0.00006
NM_015662.3(IFT172):c.1932G>A (p.Ala644=) rs374357498 0.00006
NM_015662.3(IFT172):c.877G>A (p.Ala293Thr) rs370903625 0.00006
NM_015662.3(IFT172):c.915A>G (p.Thr305=) rs180855666 0.00006
NM_015662.3(IFT172):c.1168-7G>A rs373380537 0.00005
NM_015662.3(IFT172):c.1678A>G (p.Met560Val) rs763516858 0.00005
NM_015662.3(IFT172):c.1326-17C>T rs969211942 0.00004
NM_015662.3(IFT172):c.1513C>T (p.Arg505Trp) rs779152335 0.00004
NM_015662.3(IFT172):c.1524+7A>G rs149896944 0.00004
NM_015662.3(IFT172):c.1791C>T (p.Ile597=) rs747273253 0.00004
NM_015662.3(IFT172):c.184-6T>A rs371658303 0.00004
NM_015662.3(IFT172):c.1964C>T (p.Ala655Val) rs370407165 0.00004
NM_015662.3(IFT172):c.2014C>T (p.Arg672Trp) rs201921339 0.00004
NM_015662.3(IFT172):c.2857C>T (p.Arg953Cys) rs762645007 0.00004
NM_015662.3(IFT172):c.318C>T (p.Cys106=) rs772983278 0.00004
NM_015662.3(IFT172):c.3268G>A (p.Val1090Met) rs76076247 0.00004
NM_015662.3(IFT172):c.4407C>T (p.His1469=) rs761583320 0.00004
NM_015662.3(IFT172):c.571-10T>C rs753921843 0.00004
NM_015662.3(IFT172):c.861C>T (p.Tyr287=) rs148906663 0.00004
NM_015662.3(IFT172):c.1222-5C>T rs920680020 0.00003
NM_015662.3(IFT172):c.1325+11A>G rs767955758 0.00003
NM_015662.3(IFT172):c.1693-15G>A rs1214000278 0.00003
NM_015662.3(IFT172):c.1893G>A (p.Leu631=) rs774534899 0.00003
NM_015662.3(IFT172):c.2388A>G (p.Thr796=) rs750450341 0.00003
NM_015662.3(IFT172):c.297-13T>C rs376856549 0.00003
NM_015662.3(IFT172):c.2975+14C>T rs764978738 0.00003
NM_015662.3(IFT172):c.3159C>T (p.Leu1053=) rs751712354 0.00003
NM_015662.3(IFT172):c.357A>G (p.Gln119=) rs749934202 0.00003
NM_015662.3(IFT172):c.4051-9A>G rs772647033 0.00003
NM_015662.3(IFT172):c.4161-16C>T rs573518240 0.00003
NM_015662.3(IFT172):c.4225-18dup rs773571606 0.00003
NM_015662.3(IFT172):c.456G>A (p.Glu152=) rs771141815 0.00003
NM_015662.3(IFT172):c.1414G>A (p.Asp472Asn) rs747544155 0.00002
NM_015662.3(IFT172):c.15C>T (p.His5=) rs377627847 0.00002
NM_015662.3(IFT172):c.1638G>A (p.Leu546=) rs372659702 0.00002
NM_015662.3(IFT172):c.1693-19G>T rs202039261 0.00002
NM_015662.3(IFT172):c.183+17T>C rs754011076 0.00002
NM_015662.3(IFT172):c.2194-7T>C rs569757422 0.00002
NM_015662.3(IFT172):c.3093A>G (p.Thr1031=) rs755900185 0.00002
NM_015662.3(IFT172):c.3229-4A>G rs766026056 0.00002
NM_015662.3(IFT172):c.336+14C>T rs780202491 0.00002
NM_015662.3(IFT172):c.3987A>G (p.Gln1329=) rs768705269 0.00002
NM_015662.3(IFT172):c.3990T>A (p.Arg1330=) rs367670487 0.00002
NM_015662.3(IFT172):c.40-6C>G rs747734190 0.00002
NM_015662.3(IFT172):c.4051-20G>A rs761286001 0.00002
NM_015662.3(IFT172):c.4228G>T (p.Val1410Leu) rs777573615 0.00002
NM_015662.3(IFT172):c.4539+10C>T rs778633701 0.00002
NM_015662.3(IFT172):c.4612G>A (p.Ala1538Thr) rs770733075 0.00002
NM_015662.3(IFT172):c.4629G>A (p.Thr1543=) rs371031629 0.00002
NM_015662.3(IFT172):c.4656G>A (p.Gln1552=) rs530107456 0.00002
NM_015662.3(IFT172):c.771A>G (p.Leu257=) rs756245677 0.00002
NM_015662.3(IFT172):c.780T>C (p.Tyr260=) rs752770691 0.00002
NM_015662.3(IFT172):c.108G>A (p.Val36=) rs1251466028 0.00001
NM_015662.3(IFT172):c.1092A>G (p.Gly364=) rs575297457 0.00001
NM_015662.3(IFT172):c.1242C>T (p.Ala414=) rs970385102 0.00001
NM_015662.3(IFT172):c.1314C>G (p.Pro438=) rs1435972299 0.00001
NM_015662.3(IFT172):c.1371G>A (p.Lys457=) rs759436301 0.00001
NM_015662.3(IFT172):c.1411+17C>T rs1333168893 0.00001
NM_015662.3(IFT172):c.141A>G (p.Gly47=) rs759962675 0.00001
NM_015662.3(IFT172):c.1443C>T (p.Thr481=) rs780600337 0.00001
NM_015662.3(IFT172):c.1512C>T (p.Asp504=) rs746321444 0.00001
NM_015662.3(IFT172):c.1572C>T (p.Asn524=) rs1208242658 0.00001
NM_015662.3(IFT172):c.1628G>A (p.Arg543Gln) rs755926439 0.00001
NM_015662.3(IFT172):c.1719C>T (p.Gly573=) rs373009930 0.00001
NM_015662.3(IFT172):c.1731C>G (p.Thr577=) rs369849820 0.00001
NM_015662.3(IFT172):c.1773A>G (p.Thr591=) rs1415381763 0.00001
NM_015662.3(IFT172):c.183+7A>G rs1357322553 0.00001
NM_015662.3(IFT172):c.1929T>C (p.Ile643=) rs375541145 0.00001
NM_015662.3(IFT172):c.1935G>A (p.Glu645=) rs755341436 0.00001
NM_015662.3(IFT172):c.2022+13C>T rs905264258 0.00001
NM_015662.3(IFT172):c.2022+7A>G rs773433922 0.00001
NM_015662.3(IFT172):c.2023-18C>T rs780624216 0.00001
NM_015662.3(IFT172):c.2023-7C>T rs758190461 0.00001
NM_015662.3(IFT172):c.2025C>T (p.Gly675=) rs762659921 0.00001
NM_015662.3(IFT172):c.2115+15G>A rs764321777 0.00001
NM_015662.3(IFT172):c.2127G>A (p.Glu709=) rs752839444 0.00001
NM_015662.3(IFT172):c.2175C>T (p.Ile725=) rs535676099 0.00001
NM_015662.3(IFT172):c.2208G>A (p.Leu736=) rs1235366375 0.00001
NM_015662.3(IFT172):c.2427G>A (p.Gly809=) rs760908963 0.00001
NM_015662.3(IFT172):c.2442+13C>T rs749766704 0.00001
NM_015662.3(IFT172):c.270C>A (p.Ile90=) rs759058747 0.00001
NM_015662.3(IFT172):c.2919A>G (p.Leu973=) rs1480327016 0.00001
NM_015662.3(IFT172):c.2975+8G>A rs750348734 0.00001
NM_015662.3(IFT172):c.2982T>C (p.Tyr994=) rs757083011 0.00001
NM_015662.3(IFT172):c.3103C>T (p.Leu1035=) rs1029240622 0.00001
NM_015662.3(IFT172):c.336+20C>G rs1412070265 0.00001
NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser) rs146615936 0.00001
NM_015662.3(IFT172):c.337-11C>T rs745921292 0.00001
NM_015662.3(IFT172):c.3387G>A (p.Ala1129=) rs369025741 0.00001
NM_015662.3(IFT172):c.3465+10T>C rs780429245 0.00001
NM_015662.3(IFT172):c.3465+9G>A rs1665997491 0.00001
NM_015662.3(IFT172):c.354G>A (p.Leu118=) rs757988462 0.00001
NM_015662.3(IFT172):c.363G>A (p.Pro121=) rs761759245 0.00001
NM_015662.3(IFT172):c.3984C>T (p.Pro1328=) rs1384062308 0.00001
NM_015662.3(IFT172):c.40-10G>T rs769327900 0.00001
NM_015662.3(IFT172):c.4014A>G (p.Val1338=) rs527544045 0.00001
NM_015662.3(IFT172):c.4095C>T (p.Ile1365=) rs747729113 0.00001
NM_015662.3(IFT172):c.4134G>A (p.Lys1378=) rs1039315733 0.00001
NM_015662.3(IFT172):c.4230G>A (p.Val1410=) rs145041736 0.00001
NM_015662.3(IFT172):c.4248T>C (p.Ala1416=) rs754200053 0.00001
NM_015662.3(IFT172):c.42T>C (p.Asp14=) rs1668694687 0.00001
NM_015662.3(IFT172):c.4312-10C>T rs767163406 0.00001
NM_015662.3(IFT172):c.4312-9C>T rs1665420944 0.00001
NM_015662.3(IFT172):c.4539+11G>A rs756814532 0.00001
NM_015662.3(IFT172):c.4539+18C>T rs771718287 0.00001
NM_015662.3(IFT172):c.4540-13C>T rs1665265846 0.00001
NM_015662.3(IFT172):c.4540-20G>T rs538748702 0.00001
NM_015662.3(IFT172):c.4611C>T (p.Ile1537=) rs901644807 0.00001
NM_015662.3(IFT172):c.4659+18G>A rs757297478 0.00001
NM_015662.3(IFT172):c.516A>G (p.Ala172=) rs1302439397 0.00001
NM_015662.3(IFT172):c.570+19G>A rs761066634 0.00001
NM_015662.3(IFT172):c.582T>C (p.Val194=) rs533475435 0.00001
NM_015662.3(IFT172):c.591G>A (p.Pro197=) rs747654101 0.00001
NM_015662.3(IFT172):c.59C>T (p.Thr20Ile) rs751486617 0.00001
NM_015662.3(IFT172):c.690A>G (p.Gln230=) rs892639684 0.00001
NM_015662.3(IFT172):c.6C>T (p.His2=) rs1430470069 0.00001
NM_015662.3(IFT172):c.786-15C>T rs200145274 0.00001
NM_015662.3(IFT172):c.786-16A>G rs769974669 0.00001
NM_015662.3(IFT172):c.798C>T (p.Phe266=) rs755850960 0.00001
NM_015662.3(IFT172):c.909+12G>C rs752407974 0.00001
NM_015662.3(IFT172):c.936G>A (p.Gln312=) rs139291216 0.00001
NM_015662.3(IFT172):c.1005+18C>T
NM_015662.3(IFT172):c.1006-11C>G
NM_015662.3(IFT172):c.1006-14T>A
NM_015662.3(IFT172):c.1006-16C>A
NM_015662.3(IFT172):c.1006-16C>T
NM_015662.3(IFT172):c.1006-19dup rs1455103617
NM_015662.3(IFT172):c.1006-20C>A
NM_015662.3(IFT172):c.1011T>C (p.Ile337=) rs2148544369
NM_015662.3(IFT172):c.1021C>T (p.Leu341=)
NM_015662.3(IFT172):c.1023G>C (p.Leu341=)
NM_015662.3(IFT172):c.1044G>A (p.Val348=)
NM_015662.3(IFT172):c.1050G>A (p.Lys350=)
NM_015662.3(IFT172):c.1053A>G (p.Ser351=)
NM_015662.3(IFT172):c.1071G>A (p.Val357=)
NM_015662.3(IFT172):c.1098A>G (p.Glu366=)
NM_015662.3(IFT172):c.1104C>T (p.Tyr368=)
NM_015662.3(IFT172):c.1140G>A (p.Gly380=)
NM_015662.3(IFT172):c.1144C>T (p.Leu382=)
NM_015662.3(IFT172):c.1158G>C (p.Arg386=)
NM_015662.3(IFT172):c.1167+17A>T
NM_015662.3(IFT172):c.1167+18G>A
NM_015662.3(IFT172):c.1167+20G>A rs2148543898
NM_015662.3(IFT172):c.1167+8C>G
NM_015662.3(IFT172):c.1168-12C>T
NM_015662.3(IFT172):c.1168-15C>T rs1668059914
NM_015662.3(IFT172):c.1168-16T>C
NM_015662.3(IFT172):c.1168-17G>A
NM_015662.3(IFT172):c.1168-8C>T
NM_015662.3(IFT172):c.117G>A (p.Val39=)
NM_015662.3(IFT172):c.1197G>A (p.Glu399=) rs2148543008
NM_015662.3(IFT172):c.1222-15C>T
NM_015662.3(IFT172):c.1222-6T>A
NM_015662.3(IFT172):c.1222-9T>G
NM_015662.3(IFT172):c.1227C>T (p.Cys409=) rs973370518
NM_015662.3(IFT172):c.1254C>G (p.Thr418=) rs1468553045
NM_015662.3(IFT172):c.1269G>T (p.Gly423=)
NM_015662.3(IFT172):c.126G>A (p.Leu42=) rs2148559862
NM_015662.3(IFT172):c.1281C>T (p.Thr427=)
NM_015662.3(IFT172):c.1311C>T (p.Asn437=)
NM_015662.3(IFT172):c.1325+14A>T
NM_015662.3(IFT172):c.1326-10C>A
NM_015662.3(IFT172):c.1326-8T>C
NM_015662.3(IFT172):c.1326-9A>G
NM_015662.3(IFT172):c.1368T>C (p.Asn456=)
NM_015662.3(IFT172):c.1380T>G (p.Ala460=) rs1465089677
NM_015662.3(IFT172):c.1383T>C (p.Tyr461=) rs201572769
NM_015662.3(IFT172):c.1411+7A>G
NM_015662.3(IFT172):c.1411+8A>C
NM_015662.3(IFT172):c.1412-14C>T
NM_015662.3(IFT172):c.1412-16C>T
NM_015662.3(IFT172):c.1412-20C>G rs1487705973
NM_015662.3(IFT172):c.1419G>A (p.Leu473=)
NM_015662.3(IFT172):c.1443C>G (p.Thr481=) rs780600337
NM_015662.3(IFT172):c.1485G>A (p.Glu495=)
NM_015662.3(IFT172):c.1488T>C (p.Thr496=) rs1369233091
NM_015662.3(IFT172):c.1503C>T (p.Leu501=) rs1667628081
NM_015662.3(IFT172):c.1521T>C (p.Leu507=)
NM_015662.3(IFT172):c.1524+10G>A
NM_015662.3(IFT172):c.1524+11C>A rs2148531337
NM_015662.3(IFT172):c.1524+19G>T rs1667624184
NM_015662.3(IFT172):c.1525-17G>C
NM_015662.3(IFT172):c.1525-6C>G rs201231401
NM_015662.3(IFT172):c.1551C>T (p.Cys517=)
NM_015662.3(IFT172):c.1584T>C (p.Tyr528=)
NM_015662.3(IFT172):c.1590G>A (p.Gln530=) rs770918577
NM_015662.3(IFT172):c.1614G>A (p.Leu538=)
NM_015662.3(IFT172):c.1668G>A (p.Glu556=)
NM_015662.3(IFT172):c.1671A>G (p.Arg557=)
NM_015662.3(IFT172):c.1674C>G (p.Val558=) rs1455569315
NM_015662.3(IFT172):c.1692+12A>T
NM_015662.3(IFT172):c.1692+18G>A
NM_015662.3(IFT172):c.1692+19G>C
NM_015662.3(IFT172):c.1692+9G>A
NM_015662.3(IFT172):c.1693-7T>A
NM_015662.3(IFT172):c.1693-8T>A rs1192375297
NM_015662.3(IFT172):c.1693-9C>A
NM_015662.3(IFT172):c.1710G>A (p.Leu570=) rs2148516446
NM_015662.3(IFT172):c.1722G>C (p.Gly574=)
NM_015662.3(IFT172):c.1731C>T (p.Thr577=) rs369849820
NM_015662.3(IFT172):c.1743G>A (p.Val581=)
NM_015662.3(IFT172):c.1767C>T (p.Ala589=)
NM_015662.3(IFT172):c.177C>T (p.Asp59=)
NM_015662.3(IFT172):c.1797T>C (p.Phe599=)
NM_015662.3(IFT172):c.1809T>C (p.Ile603=)
NM_015662.3(IFT172):c.1827C>T (p.Ile609=)
NM_015662.3(IFT172):c.1829+7G>A
NM_015662.3(IFT172):c.183+13T>C
NM_015662.3(IFT172):c.183+8G>T
NM_015662.3(IFT172):c.1830-13C>T rs1667020853
NM_015662.3(IFT172):c.1830-6T>G rs758128239
NM_015662.3(IFT172):c.1830-8C>T
NM_015662.3(IFT172):c.184-23dup rs747166252
NM_015662.3(IFT172):c.184-8del
NM_015662.3(IFT172):c.18G>A (p.Leu6=)
NM_015662.3(IFT172):c.1905A>G (p.Ala635=) rs2148515325
NM_015662.3(IFT172):c.1926C>T (p.His642=)
NM_015662.3(IFT172):c.1938-15G>A
NM_015662.3(IFT172):c.1938-17T>C
NM_015662.3(IFT172):c.1941C>T (p.Cys647=)
NM_015662.3(IFT172):c.1980G>T (p.Leu660=)
NM_015662.3(IFT172):c.1992T>C (p.Asn664=)
NM_015662.3(IFT172):c.2023-20A>G
NM_015662.3(IFT172):c.2023-5C>G
NM_015662.3(IFT172):c.2023-9_2023-8insAA
NM_015662.3(IFT172):c.2062C>T (p.Leu688=)
NM_015662.3(IFT172):c.2094T>C (p.Ala698=)
NM_015662.3(IFT172):c.2112A>G (p.Glu704=)
NM_015662.3(IFT172):c.2115+12A>G
NM_015662.3(IFT172):c.2115+7G>C
NM_015662.3(IFT172):c.2116-11G>C
NM_015662.3(IFT172):c.2116-11G>T
NM_015662.3(IFT172):c.2116-5C>G
NM_015662.3(IFT172):c.2116-5C>T rs754154643
NM_015662.3(IFT172):c.2116-7C>T
NM_015662.3(IFT172):c.2130G>A (p.Glu710=)
NM_015662.3(IFT172):c.2145C>T (p.Tyr715=)
NM_015662.3(IFT172):c.2166T>C (p.Asp722=)
NM_015662.3(IFT172):c.2169G>A (p.Glu723=)
NM_015662.3(IFT172):c.2172T>C (p.Cys724=)
NM_015662.3(IFT172):c.2178T>C (p.Ala726=) rs2148507415
NM_015662.3(IFT172):c.2190C>T (p.Ala730=) rs781352681
NM_015662.3(IFT172):c.2193+13T>C rs947674391
NM_015662.3(IFT172):c.2193+14C>A rs1666690784
NM_015662.3(IFT172):c.2193+16T>C
NM_015662.3(IFT172):c.2193+16_2193+18del rs1215056367
NM_015662.3(IFT172):c.2193+18T>C
NM_015662.3(IFT172):c.2194-10G>T rs1666669350
NM_015662.3(IFT172):c.2194-12G>A
NM_015662.3(IFT172):c.2194-15T>G rs1666669871
NM_015662.3(IFT172):c.2194-6G>T
NM_015662.3(IFT172):c.2194-8A>G
NM_015662.3(IFT172):c.2194-9C>A
NM_015662.3(IFT172):c.2199C>T (p.His733=) rs146482086
NM_015662.3(IFT172):c.219T>A (p.Ala73=) rs2148559300
NM_015662.3(IFT172):c.2205C>T (p.Ala735=)
NM_015662.3(IFT172):c.2214G>A (p.Lys738=)
NM_015662.3(IFT172):c.2232C>T (p.Tyr744=)
NM_015662.3(IFT172):c.2239C>T (p.Leu747=)
NM_015662.3(IFT172):c.2277A>G (p.Leu759=) rs2148506541
NM_015662.3(IFT172):c.2289A>G (p.Gln763=)
NM_015662.3(IFT172):c.2299C>T (p.Leu767=) rs1666656398
NM_015662.3(IFT172):c.2403C>T (p.His801=)
NM_015662.3(IFT172):c.2430A>G (p.Glu810=)
NM_015662.3(IFT172):c.2442+14C>T
NM_015662.3(IFT172):c.2442+9G>C rs771351250
NM_015662.3(IFT172):c.2443-14G>A
NM_015662.3(IFT172):c.2443-14G>T rs1261651716
NM_015662.3(IFT172):c.2443-17G>A
NM_015662.3(IFT172):c.2443-18T>C
NM_015662.3(IFT172):c.246C>G (p.Ala82=)
NM_015662.3(IFT172):c.2481G>A (p.Lys827=)
NM_015662.3(IFT172):c.2487G>A (p.Leu829=) rs2148505508
NM_015662.3(IFT172):c.2496C>T (p.Tyr832=) rs377514145
NM_015662.3(IFT172):c.2511A>G (p.Ala837=)
NM_015662.3(IFT172):c.2521+15T>A
NM_015662.3(IFT172):c.2521+18G>A
NM_015662.3(IFT172):c.255G>A (p.Gln85=)
NM_015662.3(IFT172):c.273T>C (p.Tyr91=)
NM_015662.3(IFT172):c.282G>A (p.Lys94=)
NM_015662.3(IFT172):c.2877+10G>A rs2148500039
NM_015662.3(IFT172):c.2877+8T>C
NM_015662.3(IFT172):c.2878-19T>C
NM_015662.3(IFT172):c.2878-4A>G
NM_015662.3(IFT172):c.2883G>A (p.Ala961=)
NM_015662.3(IFT172):c.2896A>C (p.Arg966=)
NM_015662.3(IFT172):c.291A>G (p.Glu97=) rs189236939
NM_015662.3(IFT172):c.296+12G>C
NM_015662.3(IFT172):c.297-15del
NM_015662.3(IFT172):c.2975+16A>G
NM_015662.3(IFT172):c.2976-16G>A
NM_015662.3(IFT172):c.2976-6C>T
NM_015662.3(IFT172):c.2979A>T (p.Leu993=)
NM_015662.3(IFT172):c.2985G>A (p.Val995=)
NM_015662.3(IFT172):c.3054C>T (p.Arg1018=)
NM_015662.3(IFT172):c.3081C>G (p.Leu1027=) rs1572750803
NM_015662.3(IFT172):c.3105G>A (p.Leu1035=)
NM_015662.3(IFT172):c.3111+20C>T
NM_015662.3(IFT172):c.3111+7C>T
NM_015662.3(IFT172):c.3112-15C>T
NM_015662.3(IFT172):c.3112-19C>G rs1666279699
NM_015662.3(IFT172):c.3112-20C>T
NM_015662.3(IFT172):c.3112-7C>T
NM_015662.3(IFT172):c.3114G>A (p.Glu1038=)
NM_015662.3(IFT172):c.312C>T (p.Val104=)
NM_015662.3(IFT172):c.3225C>T (p.Tyr1075=) rs1666265665
NM_015662.3(IFT172):c.3228+13G>A
NM_015662.3(IFT172):c.3228+20C>G
NM_015662.3(IFT172):c.3229-9G>T
NM_015662.3(IFT172):c.3267C>T (p.His1089=)
NM_015662.3(IFT172):c.3294G>A (p.Leu1098=)
NM_015662.3(IFT172):c.3300A>G (p.Gly1100=)
NM_015662.3(IFT172):c.3312T>A (p.Val1104=) rs2148494491
NM_015662.3(IFT172):c.3336C>T (p.Leu1112=)
NM_015662.3(IFT172):c.3354C>T (p.Asp1118=)
NM_015662.3(IFT172):c.336+17T>G rs980703626
NM_015662.3(IFT172):c.3366C>T (p.Asp1122=) rs1389894777
NM_015662.3(IFT172):c.3369T>C (p.Asn1123=)
NM_015662.3(IFT172):c.3371+12A>G
NM_015662.3(IFT172):c.3371+20C>T
NM_015662.3(IFT172):c.3371+9C>T
NM_015662.3(IFT172):c.3372-20A>G
NM_015662.3(IFT172):c.3372-9C>T rs755327956
NM_015662.3(IFT172):c.339T>C (p.Ser113=)
NM_015662.3(IFT172):c.3429G>A (p.Glu1143=) rs2148490003
NM_015662.3(IFT172):c.3438C>T (p.Leu1146=)
NM_015662.3(IFT172):c.3447T>C (p.Ala1149=) rs2148489948
NM_015662.3(IFT172):c.3465+11G>T
NM_015662.3(IFT172):c.3465+8T>C
NM_015662.3(IFT172):c.3466-11_3466-8del rs773373497
NM_015662.3(IFT172):c.3466-13TC[2] rs773373497
NM_015662.3(IFT172):c.3466-17C>T rs2148489457
NM_015662.3(IFT172):c.369A>G (p.Glu123=)
NM_015662.3(IFT172):c.381C>T (p.Val127=)
NM_015662.3(IFT172):c.384T>C (p.Phe128=)
NM_015662.3(IFT172):c.387A>G (p.Gly129=)
NM_015662.3(IFT172):c.3952-14G>A rs763108930
NM_015662.3(IFT172):c.3952-6A>C rs908057940
NM_015662.3(IFT172):c.399G>A (p.Gly133=)
NM_015662.3(IFT172):c.40-9C>T
NM_015662.3(IFT172):c.4002C>T (p.Val1334=)
NM_015662.3(IFT172):c.4011T>A (p.Ala1337=)
NM_015662.3(IFT172):c.402+8A>G
NM_015662.3(IFT172):c.4029T>A (p.Ile1343=)
NM_015662.3(IFT172):c.4041G>A (p.Lys1347=)
NM_015662.3(IFT172):c.4050+9del
NM_015662.3(IFT172):c.4051-13T>A
NM_015662.3(IFT172):c.4051-13del rs756768673
NM_015662.3(IFT172):c.4051-8C>T rs1183759904
NM_015662.3(IFT172):c.4051-9A>T
NM_015662.3(IFT172):c.4074G>A (p.Leu1358=)
NM_015662.3(IFT172):c.4077C>T (p.Asp1359=)
NM_015662.3(IFT172):c.4107C>T (p.Ile1369=) rs747023555
NM_015662.3(IFT172):c.4116G>A (p.Glu1372=) rs758268726
NM_015662.3(IFT172):c.4119G>A (p.Glu1373=)
NM_015662.3(IFT172):c.4131G>A (p.Ala1377=)
NM_015662.3(IFT172):c.4149G>A (p.Glu1383=)
NM_015662.3(IFT172):c.414A>C (p.Ala138=) rs1668544883
NM_015662.3(IFT172):c.4160+19_4160+21del rs760484345
NM_015662.3(IFT172):c.4161-10A>G
NM_015662.3(IFT172):c.4161-18C>G rs1558357557
NM_015662.3(IFT172):c.4173T>C (p.Tyr1391=) rs1572722884
NM_015662.3(IFT172):c.4176G>C (p.Val1392=) rs1243938107
NM_015662.3(IFT172):c.4177G>A (p.Asp1393Asn)
NM_015662.3(IFT172):c.4185T>C (p.His1395=)
NM_015662.3(IFT172):c.4224+15G>C
NM_015662.3(IFT172):c.4224+8T>C
NM_015662.3(IFT172):c.4225-17G>A
NM_015662.3(IFT172):c.4225-17G>C
NM_015662.3(IFT172):c.4225-19C>G
NM_015662.3(IFT172):c.4225-19_4225-18del
NM_015662.3(IFT172):c.4225-9T>C
NM_015662.3(IFT172):c.4239T>C (p.Asp1413=) rs748345321
NM_015662.3(IFT172):c.4258C>T (p.Leu1420=)
NM_015662.3(IFT172):c.4260G>C (p.Leu1420=)
NM_015662.3(IFT172):c.4311+16C>T
NM_015662.3(IFT172):c.4312-14C>T
NM_015662.3(IFT172):c.4312-4dup
NM_015662.3(IFT172):c.435A>G (p.Ser145=)
NM_015662.3(IFT172):c.4374C>T (p.Ser1458=)
NM_015662.3(IFT172):c.4387T>C (p.Leu1463=) rs1455837031
NM_015662.3(IFT172):c.4413C>T (p.Ala1471=)
NM_015662.3(IFT172):c.4428+15C>T
NM_015662.3(IFT172):c.4449G>A (p.Arg1483=)
NM_015662.3(IFT172):c.4476T>C (p.Pro1492=)
NM_015662.3(IFT172):c.4485C>T (p.Asn1495=)
NM_015662.3(IFT172):c.4491C>G (p.Ala1497=) rs774451726
NM_015662.3(IFT172):c.4500T>C (p.Tyr1500=)
NM_015662.3(IFT172):c.4521A>C (p.Arg1507=) rs1244568496
NM_015662.3(IFT172):c.4530C>T (p.Leu1510=)
NM_015662.3(IFT172):c.4536C>T (p.Asn1512=)
NM_015662.3(IFT172):c.453A>G (p.Thr151=)
NM_015662.3(IFT172):c.4540-15G>A
NM_015662.3(IFT172):c.4554G>A (p.Val1518=)
NM_015662.3(IFT172):c.4581C>T (p.Ala1527=)
NM_015662.3(IFT172):c.4590G>A (p.Glu1530=)
NM_015662.3(IFT172):c.4593C>G (p.Phe1531Leu) rs540171862
NM_015662.3(IFT172):c.4599G>A (p.Thr1533=)
NM_015662.3(IFT172):c.4617T>C (p.His1539=) rs1266021624
NM_015662.3(IFT172):c.4659+16T>A rs143060452
NM_015662.3(IFT172):c.468G>A (p.Val156=)
NM_015662.3(IFT172):c.482+10G>C
NM_015662.3(IFT172):c.482+16T>G
NM_015662.3(IFT172):c.482+9A>G
NM_015662.3(IFT172):c.483-19C>T
NM_015662.3(IFT172):c.483-4T>C rs1668525396
NM_015662.3(IFT172):c.483-7T>C
NM_015662.3(IFT172):c.483-9C>T
NM_015662.3(IFT172):c.495A>G (p.Lys165=) rs1202101296
NM_015662.3(IFT172):c.525C>T (p.Thr175=)
NM_015662.3(IFT172):c.528C>T (p.Ile176=)
NM_015662.3(IFT172):c.549T>C (p.Asp183=)
NM_015662.3(IFT172):c.555C>G (p.Gly185=) rs750613450
NM_015662.3(IFT172):c.555C>T (p.Gly185=) rs750613450
NM_015662.3(IFT172):c.570+14A>C
NM_015662.3(IFT172):c.570+19G>C rs761066634
NM_015662.3(IFT172):c.571-12C>T rs2148550539
NM_015662.3(IFT172):c.571-17C>T
NM_015662.3(IFT172):c.571-18C>T
NM_015662.3(IFT172):c.571-7G>C
NM_015662.3(IFT172):c.597A>G (p.Pro199=)
NM_015662.3(IFT172):c.630C>T (p.Ile210=)
NM_015662.3(IFT172):c.639A>G (p.Ala213=)
NM_015662.3(IFT172):c.663C>G (p.Ala221=) rs2148550253
NM_015662.3(IFT172):c.723G>T (p.Arg241=)
NM_015662.3(IFT172):c.726G>A (p.Glu242=)
NM_015662.3(IFT172):c.729C>T (p.Phe243=)
NM_015662.3(IFT172):c.738T>C (p.Ala246=) rs1365791183
NM_015662.3(IFT172):c.756C>G (p.Gly252=)
NM_015662.3(IFT172):c.785+16A>G
NM_015662.3(IFT172):c.785+8C>G
NM_015662.3(IFT172):c.786-18C>G rs773491435
NM_015662.3(IFT172):c.786-18C>T
NM_015662.3(IFT172):c.813A>G (p.Arg271=)
NM_015662.3(IFT172):c.834A>G (p.Ala278=) rs1221821042
NM_015662.3(IFT172):c.840C>G (p.Pro280=)
NM_015662.3(IFT172):c.843G>A (p.Lys281=) rs1668252791
NM_015662.3(IFT172):c.894C>T (p.Gly298=) rs2148547913
NM_015662.3(IFT172):c.909+17C>A rs376213191
NM_015662.3(IFT172):c.909+17C>G
NM_015662.3(IFT172):c.910-20G>A
NM_015662.3(IFT172):c.910-8C>T
NM_015662.3(IFT172):c.933A>G (p.Glu311=)
NM_015662.3(IFT172):c.969G>A (p.Lys323=)
NM_015662.3(IFT172):c.984G>A (p.Leu328=)
NM_015662.3(IFT172):c.993G>T (p.Val331=)
NM_015662.3(IFT172):c.99C>T (p.Val33=)

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