ClinVar Miner

List of variants in gene IFT140 studied for not provided

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Gene type:
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Total variants: 61
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HGVS dbSNP
NM_014714.4(IFT140):c.1527G>A (p.Gly509=) rs777713841
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile) rs1321089981
NM_014714.4(IFT140):c.1563G>A (p.Glu521=) rs146356094
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737
NM_014714.4(IFT140):c.1667A>G (p.His556Arg) rs137925718
NM_014714.4(IFT140):c.1727G>A (p.Arg576Gln) rs373111085
NM_014714.4(IFT140):c.1896T>A (p.Thr632=) rs141276689
NM_014714.4(IFT140):c.1933A>G (p.Asn645Asp) rs540658203
NM_014714.4(IFT140):c.1944C>T (p.Pro648=) rs763449097
NM_014714.4(IFT140):c.2010G>A (p.Pro670=) rs181881627
NM_014714.4(IFT140):c.2068-2A>G
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala) rs1057518064
NM_014714.4(IFT140):c.2202C>T (p.Pro734=) rs570605676
NM_014714.4(IFT140):c.2360A>G (p.Asp787Gly) rs144938800
NM_014714.4(IFT140):c.2400-2A>G rs1555478654
NM_014714.4(IFT140):c.2477A>T (p.Asn826Ile) rs1212997974
NM_014714.4(IFT140):c.2501G>A (p.Arg834Gln) rs771116194
NM_014714.4(IFT140):c.2504C>T (p.Ala835Val) rs368232950
NM_014714.4(IFT140):c.2509C>G (p.Arg837Gly) rs754073086
NM_014714.4(IFT140):c.2542C>T (p.Arg848Cys) rs201384469
NM_014714.4(IFT140):c.2544C>T (p.Arg848=) rs371008462
NM_014714.4(IFT140):c.2551G>A (p.Val851Met) rs754753583
NM_014714.4(IFT140):c.2586C>T (p.Ala862=) rs148557575
NM_014714.4(IFT140):c.2589G>A (p.Glu863=) rs765470612
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter) rs144513458
NM_014714.4(IFT140):c.2611C>T (p.Arg871Cys)
NM_014714.4(IFT140):c.2616C>T (p.His872=) rs761615768
NM_014714.4(IFT140):c.2617G>A (p.Asp873Asn) rs560840162
NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter) rs1567330535
NM_014714.4(IFT140):c.2756G>A (p.Arg919Gln) rs201851204
NM_014714.4(IFT140):c.2773G>A (p.Glu925Lys) rs368922367
NM_014714.4(IFT140):c.2787G>A (p.Thr929=) rs374661866
NM_014714.4(IFT140):c.2829G>A (p.Pro943=) rs141779807
NM_014714.4(IFT140):c.2865-5C>T rs779711939
NM_014714.4(IFT140):c.2914G>A (p.Asp972Asn) rs1555478031
NM_014714.4(IFT140):c.2922G>A (p.Ala974=) rs201864536
NM_014714.4(IFT140):c.2997+7T>A rs946595729
NM_014714.4(IFT140):c.2998-4C>A rs764678988
NM_014714.4(IFT140):c.3030G>A (p.Leu1010=) rs775322966
NM_014714.4(IFT140):c.3141+1G>T rs764770536
NM_014714.4(IFT140):c.3210G>A (p.Ala1070=) rs372233286
NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs) rs766084603
NM_014714.4(IFT140):c.3252G>A (p.Ala1084=) rs375975334
NM_014714.4(IFT140):c.3413_3414delinsTA (p.Gln1138Leu) rs1567326635
NM_014714.4(IFT140):c.3525C>T (p.Thr1175=) rs752664070
NM_014714.4(IFT140):c.3532A>G (p.Lys1178Glu) rs538114464
NM_014714.4(IFT140):c.3543G>A (p.Ser1181=) rs377427370
NM_014714.4(IFT140):c.3672G>A (p.Ala1224=) rs765766910
NM_014714.4(IFT140):c.3675G>T (p.Leu1225=) rs759998867
NM_014714.4(IFT140):c.3786del (p.Glu1262fs) rs1567323053
NM_014714.4(IFT140):c.3830G>A (p.Arg1277Gln) rs756683299
NM_014714.4(IFT140):c.3874-10A>C rs761503137
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) rs1002670900
NM_014714.4(IFT140):c.3966C>T (p.Pro1322=) rs181794285
NM_014714.4(IFT140):c.3991C>T (p.Gln1331Ter) rs794727473
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) rs35823417
NM_014714.4(IFT140):c.4036C>T (p.Arg1346Cys) rs556735183
NM_014714.4(IFT140):c.4041-6C>T rs1596295050
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln) rs113216558
NM_014714.4(IFT140):c.4264G>A (p.Ala1422Thr) rs144726977
NM_014714.4(IFT140):c.4338C>T (p.Asp1446=) rs779634878

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