ClinVar Miner

List of variants in gene IFT140 reported as pathogenic

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Gene type:
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Total variants: 61
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_014714.4(IFT140):c.2399+1G>T rs376586707 0.00006
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) rs1002670900 0.00006
NM_014714.4(IFT140):c.1990G>A (p.Glu664Lys) rs387907192 0.00004
NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln) rs373111085 0.00003
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys) rs767213195 0.00003
NM_014714.4(IFT140):c.1959G>A (p.Trp653Ter) rs770731272 0.00001
NM_014714.4(IFT140):c.2177C>T (p.Pro726Leu) rs1417500285 0.00001
NM_014714.4(IFT140):c.3214C>T (p.Arg1072Ter) rs1432688490 0.00001
NM_014714.4(IFT140):c.4196T>C (p.Leu1399Pro) rs559371453 0.00001
GRCh37/hg19 16p13.3(chr16:1568217-1570809)
GRCh38/hg38 16p13.3(chr16:1515602-1521308)x3
NC_000016.9:g.(?_1568197)_(1570829_?)dup
NC_000016.9:g.(?_1574533)_(1576817_?)del
NC_000016.9:g.(?_1607916)_(1608155_?)del
NC_000016.9:g.(?_1618198)_(1618355_?)del
NC_000016.9:g.(?_1621388)_(1621555_?)del
NC_000016.9:g.(?_1633295)_(1637325_?)del
NM_014714.4(IFT140):c.1525-1G>A rs2034013225
NM_014714.4(IFT140):c.1525-2A>T rs2141634877
NM_014714.4(IFT140):c.1597_1598insA (p.Phe533fs)
NM_014714.4(IFT140):c.1648C>T (p.Arg550Ter)
NM_014714.4(IFT140):c.1795dup (p.Ile599fs) rs2141570994
NM_014714.4(IFT140):c.1867_1870del (p.Glu623fs)
NM_014714.4(IFT140):c.1898_1901del (p.Asn633fs) rs1555487977
NM_014714.4(IFT140):c.1992_2005dup (p.Thr669fs) rs2141541431
NM_014714.4(IFT140):c.2038C>T (p.Gln680Ter) rs2141540660
NM_014714.4(IFT140):c.2214_2217del (p.Asp738fs) rs1415763185
NM_014714.4(IFT140):c.2278C>T (p.Arg760Ter) rs1555486629
NM_014714.4(IFT140):c.2292del (p.Leu765fs)
NM_014714.4(IFT140):c.2400-2A>G rs1555478654
NM_014714.4(IFT140):c.2411G>A (p.Trp804Ter)
NM_014714.4(IFT140):c.2443C>T (p.Gln815Ter) rs2141185231
NM_014714.4(IFT140):c.2483del (p.Gly828fs)
NM_014714.4(IFT140):c.2500C>T (p.Arg834Ter) rs777399400
NM_014714.4(IFT140):c.2577+25G>A rs1423102192
NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter) rs1567330535
NM_014714.4(IFT140):c.2671del (p.Gln890_Val891insTer) rs2141179932
NM_014714.4(IFT140):c.2677G>T (p.Glu893Ter) rs372746686
NM_014714.4(IFT140):c.2682delinsAA (p.His894fs)
NM_014714.4(IFT140):c.3192del (p.Glu1065fs) rs1567327347
NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs) rs766084603
NM_014714.4(IFT140):c.3313C>T (p.Gln1105Ter)
NM_014714.4(IFT140):c.3408_3409del (p.His1136fs) rs765669703
NM_014714.4(IFT140):c.3454-1003_4040+737delinsC
NM_014714.4(IFT140):c.3454-488_4182+2588dup
NM_014714.4(IFT140):c.3489del (p.Asn1163fs) rs2141148172
NM_014714.4(IFT140):c.3502G>T (p.Glu1168Ter)
NM_014714.4(IFT140):c.3640C>T (p.Gln1214Ter) rs2141147087
NM_014714.4(IFT140):c.3672_3673del (p.Leu1225fs) rs754400742
NM_014714.4(IFT140):c.3691_3692del (p.Thr1231fs) rs2141145188
NM_014714.4(IFT140):c.3727C>T (p.Gln1243Ter) rs2141144931
NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu) rs779007169
NM_014714.4(IFT140):c.3891C>A (p.Tyr1297Ter)
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.3981del (p.Arg1328fs) rs1431530916
NM_014714.4(IFT140):c.3991C>T (p.Gln1331Ter) rs794727473
NM_014714.4(IFT140):c.4041-2A>G
NM_014714.4(IFT140):c.4078T>C (p.Cys1360Arg) rs431905520
NM_014714.4(IFT140):c.4236_4239dup (p.Tyr1414fs) rs1555474009
NM_014714.4:c.(?_-1)_(*1_?)del

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