ClinVar Miner

List of variants in gene IFT140 reported by GeneDx

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Total variants: 17
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HGVS dbSNP
NM_014714.4(IFT140):c.1771-5_1771-3del rs767298881
NM_014714.4(IFT140):c.1862G>A (p.Arg621Gln) rs11648609
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala) rs1057518064
NM_014714.4(IFT140):c.2253T>C (p.Pro751=) rs2076436
NM_014714.4(IFT140):c.2400-2A>G rs1555478654
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter) rs144513458
NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter) rs1567330535
NM_014714.4(IFT140):c.2914G>A (p.Asp972Asn) rs1555478031
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val) rs2235638
NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs) rs766084603
NM_014714.4(IFT140):c.3270+19T>C rs2745176
NM_014714.4(IFT140):c.3532A>G (p.Lys1178Glu) rs538114464
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) rs1002670900
NM_014714.4(IFT140):c.3993G>C (p.Gln1331His) rs35823417
NM_014714.4(IFT140):c.4264G>A (p.Ala1422Thr) rs144726977

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