ClinVar Miner

List of variants in gene IFT172, LOC126806173 studied for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 140
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HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.3915T>A (p.Ser1305=) rs56076827 0.37673
NM_015662.3(IFT172):c.3610G>C (p.Val1204Leu) rs7580439 0.00319
NM_015662.3(IFT172):c.3530+7T>C rs150882197 0.00103
NM_015662.3(IFT172):c.3674G>A (p.Arg1225Gln) rs141440865 0.00041
NM_015662.3(IFT172):c.3951+14G>T rs376690357 0.00026
NM_015662.3(IFT172):c.3711+13A>T rs371208266 0.00025
NM_015662.3(IFT172):c.3711+3G>A rs202055593 0.00024
NM_015662.3(IFT172):c.3594T>C (p.Ser1198=) rs775374622 0.00023
NM_015662.3(IFT172):c.3851G>A (p.Arg1284Gln) rs147394910 0.00015
NM_015662.3(IFT172):c.3772G>A (p.Glu1258Lys) rs529914770 0.00010
NM_015662.3(IFT172):c.3538C>T (p.His1180Tyr) rs746868013 0.00009
NM_015662.3(IFT172):c.3673C>T (p.Arg1225Trp) rs148305851 0.00009
NM_015662.3(IFT172):c.3933G>A (p.Ala1311=) rs143011753 0.00008
NM_015662.3(IFT172):c.3711+17A>G rs376488082 0.00007
NM_015662.3(IFT172):c.3530+12C>G rs755760582 0.00006
NM_015662.3(IFT172):c.3921C>T (p.Asn1307=) rs377211687 0.00006
NM_015662.3(IFT172):c.3643G>A (p.Asp1215Asn) rs777398021 0.00005
NM_015662.3(IFT172):c.3549T>C (p.Asp1183=) rs566100277 0.00004
NM_015662.3(IFT172):c.3566G>A (p.Arg1189His) rs367806691 0.00004
NM_015662.3(IFT172):c.3713A>C (p.Glu1238Ala) rs553301895 0.00004
NM_015662.3(IFT172):c.3880C>T (p.Arg1294Cys) rs369191459 0.00004
NM_015662.3(IFT172):c.3597C>T (p.Val1199=) rs371169770 0.00003
NM_015662.3(IFT172):c.3601G>A (p.Glu1201Lys) rs747872724 0.00003
NM_015662.3(IFT172):c.3822-16G>A rs373661630 0.00003
NM_015662.3(IFT172):c.3711+15G>A rs778810233 0.00002
NM_015662.3(IFT172):c.3739C>T (p.Arg1247Cys) rs375755957 0.00002
NM_015662.3(IFT172):c.3530+11C>G rs777469179 0.00001
NM_015662.3(IFT172):c.3531-11C>A rs1489039902 0.00001
NM_015662.3(IFT172):c.3568G>A (p.Val1190Met) rs1456528874 0.00001
NM_015662.3(IFT172):c.3575A>G (p.Glu1192Gly) rs1356192791 0.00001
NM_015662.3(IFT172):c.3582C>T (p.His1194=) rs376037251 0.00001
NM_015662.3(IFT172):c.3583G>A (p.Asp1195Asn) rs762074176 0.00001
NM_015662.3(IFT172):c.3615A>G (p.Gly1205=) rs768132019 0.00001
NM_015662.3(IFT172):c.3622C>T (p.Arg1208Trp) rs779395435 0.00001
NM_015662.3(IFT172):c.3732C>T (p.Asp1244=) rs370204045 0.00001
NM_015662.3(IFT172):c.3746G>A (p.Cys1249Tyr) rs139455520 0.00001
NM_015662.3(IFT172):c.3752A>T (p.Asp1251Val) rs1665910456 0.00001
NM_015662.3(IFT172):c.3756T>C (p.Tyr1252=) rs759026392 0.00001
NM_015662.3(IFT172):c.3767A>G (p.Gln1256Arg) rs765703265 0.00001
NM_015662.3(IFT172):c.3769C>T (p.Leu1257=) rs373382907 0.00001
NM_015662.3(IFT172):c.3778C>G (p.Leu1260Val) rs1012597627 0.00001
NM_015662.3(IFT172):c.3793G>T (p.Glu1265Ter) rs999731005 0.00001
NM_015662.3(IFT172):c.3796C>T (p.Arg1266Trp) rs902724768 0.00001
NM_015662.3(IFT172):c.3821+20G>T rs747215115 0.00001
NM_015662.3(IFT172):c.3822-19A>T rs1204452162 0.00001
NM_015662.3(IFT172):c.3836T>C (p.Phe1279Ser) rs1303152998 0.00001
NM_015662.3(IFT172):c.3859G>A (p.Glu1287Lys) rs1336146422 0.00001
NM_015662.3(IFT172):c.3877A>G (p.Ser1293Gly) rs780413940 0.00001
NM_015662.3(IFT172):c.3881G>A (p.Arg1294His) rs947637366 0.00001
NM_015662.3(IFT172):c.3886G>A (p.Val1296Met) rs757728167 0.00001
NM_015662.3(IFT172):c.3907C>T (p.Arg1303Ter) rs587777087 0.00001
NM_015662.3(IFT172):c.3908G>A (p.Arg1303Gln) rs768194578 0.00001
NM_015662.3(IFT172):c.3924C>T (p.Ser1308=) rs764778967 0.00001
NM_015662.3(IFT172):c.3927C>T (p.Gly1309=) rs768633686 0.00001
NM_015662.3(IFT172):c.3932C>T (p.Ala1311Val) rs760562906 0.00001
NM_015662.3(IFT172):c.3944G>A (p.Trp1315Ter) rs778898472 0.00001
NM_015662.3(IFT172):c.3511C>G (p.Pro1171Ala) rs747503760
NM_015662.3(IFT172):c.3513C>A (p.Pro1171=)
NM_015662.3(IFT172):c.3516G>A (p.Lys1172=)
NM_015662.3(IFT172):c.3520G>C (p.Ala1174Pro)
NM_015662.3(IFT172):c.3523G>A (p.Val1175Ile)
NM_015662.3(IFT172):c.3530+17A>G
NM_015662.3(IFT172):c.3530+18T>C rs2148489134
NM_015662.3(IFT172):c.3530+20C>A
NM_015662.3(IFT172):c.3562C>T (p.Gln1188Ter)
NM_015662.3(IFT172):c.3580C>G (p.His1194Asp) rs764965204
NM_015662.3(IFT172):c.3586C>T (p.Pro1196Ser) rs1665955306
NM_015662.3(IFT172):c.3590A>G (p.Asp1197Gly) rs760796294
NM_015662.3(IFT172):c.3598G>A (p.Ala1200Thr) rs377521375
NM_015662.3(IFT172):c.3600C>A (p.Ala1200=) rs1406584809
NM_015662.3(IFT172):c.3600C>T (p.Ala1200=) rs1406584809
NM_015662.3(IFT172):c.3603G>A (p.Glu1201=)
NM_015662.3(IFT172):c.3604G>T (p.Val1202Leu)
NM_015662.3(IFT172):c.3607C>G (p.Leu1203Val) rs2148488428
NM_015662.3(IFT172):c.3616C>G (p.Gln1206Glu) rs1313893050
NM_015662.3(IFT172):c.3620C>T (p.Ala1207Val) rs746530471
NM_015662.3(IFT172):c.3623G>A (p.Arg1208Gln) rs758387302
NM_015662.3(IFT172):c.3623G>C (p.Arg1208Pro) rs758387302
NM_015662.3(IFT172):c.3628dup (p.Ala1210fs)
NM_015662.3(IFT172):c.3632T>G (p.Leu1211Trp) rs532669006
NM_015662.3(IFT172):c.3634G>A (p.Glu1212Lys) rs764315033
NM_015662.3(IFT172):c.3637G>A (p.Glu1213Lys)
NM_015662.3(IFT172):c.3648dup (p.Gln1217fs)
NM_015662.3(IFT172):c.3662G>C (p.Gly1221Ala) rs1454157190
NM_015662.3(IFT172):c.3663G>A (p.Gly1221=) rs892273103
NM_015662.3(IFT172):c.3699C>T (p.Leu1233=)
NM_015662.3(IFT172):c.3700A>C (p.Asn1234His) rs746597294
NM_015662.3(IFT172):c.3701A>G (p.Asn1234Ser)
NM_015662.3(IFT172):c.3702T>C (p.Asn1234=)
NM_015662.3(IFT172):c.3711+8A>T
NM_015662.3(IFT172):c.3712-17C>A rs760418910
NM_015662.3(IFT172):c.3712-18A>G
NM_015662.3(IFT172):c.3712-2A>T
NM_015662.3(IFT172):c.3712-6G>C rs1665914988
NM_015662.3(IFT172):c.3712G>A (p.Glu1238Lys)
NM_015662.3(IFT172):c.3728G>T (p.Ser1243Ile) rs145507269
NM_015662.3(IFT172):c.3730G>A (p.Asp1244Asn)
NM_015662.3(IFT172):c.3735T>G (p.Ala1245=)
NM_015662.3(IFT172):c.3736C>T (p.Leu1246=) rs1665912193
NM_015662.3(IFT172):c.3761_3766del (p.Pro1254_Ser1255del) rs763826196
NM_015662.3(IFT172):c.3778C>T (p.Leu1260=) rs1012597627
NM_015662.3(IFT172):c.3791A>T (p.Tyr1264Phe)
NM_015662.3(IFT172):c.3793G>C (p.Glu1265Gln)
NM_015662.3(IFT172):c.3797G>A (p.Arg1266Gln)
NM_015662.3(IFT172):c.3801A>G (p.Glu1267=)
NM_015662.3(IFT172):c.3811A>G (p.Lys1271Glu)
NM_015662.3(IFT172):c.3813G>T (p.Lys1271Asn)
NM_015662.3(IFT172):c.3816G>C (p.Gly1272=)
NM_015662.3(IFT172):c.3819C>T (p.Ala1273=)
NM_015662.3(IFT172):c.3821+11A>T
NM_015662.3(IFT172):c.3821+5G>A
NM_015662.3(IFT172):c.3822-12_3822-11del rs2148486525
NM_015662.3(IFT172):c.3822-13C>G rs765929814
NM_015662.3(IFT172):c.3822-15C>T
NM_015662.3(IFT172):c.3822-2_3822-1del
NM_015662.3(IFT172):c.3822-5C>T
NM_015662.3(IFT172):c.3822-8C>T
NM_015662.3(IFT172):c.3824G>A (p.Gly1275Asp)
NM_015662.3(IFT172):c.3824G>T (p.Gly1275Val) rs543062539
NM_015662.3(IFT172):c.3828G>A (p.Val1276=)
NM_015662.3(IFT172):c.3844C>A (p.Gln1282Lys) rs1665885295
NM_015662.3(IFT172):c.3850C>T (p.Arg1284Ter) rs1366937730
NM_015662.3(IFT172):c.3855C>G (p.His1285Gln) rs776343273
NM_015662.3(IFT172):c.3866C>A (p.Ala1289Asp) rs768543764
NM_015662.3(IFT172):c.3870A>C (p.Gly1290=)
NM_015662.3(IFT172):c.3871G>A (p.Glu1291Lys) rs1665880862
NM_015662.3(IFT172):c.3888G>A (p.Val1296=)
NM_015662.3(IFT172):c.3902A>G (p.Lys1301Arg)
NM_015662.3(IFT172):c.3910G>T (p.Asp1304Tyr)
NM_015662.3(IFT172):c.3914_3915del (p.Ser1305fs)
NM_015662.3(IFT172):c.3921C>G (p.Asn1307Lys) rs377211687
NM_015662.3(IFT172):c.3925G>A (p.Gly1309Ser)
NM_015662.3(IFT172):c.3926G>A (p.Gly1309Asp)
NM_015662.3(IFT172):c.3949A>T (p.Lys1317Ter) rs2148485970
NM_015662.3(IFT172):c.3951+11C>G
NM_015662.3(IFT172):c.3951+11C>T
NM_015662.3(IFT172):c.3951+17C>T
NM_015662.3(IFT172):c.3951+18T>A
NM_015662.3(IFT172):c.3951+2_3951+5dup rs2148485951
NM_015662.3(IFT172):c.3951+8C>T

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