ClinVar Miner

List of variants in gene IFT140 reported as likely pathogenic

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Total variants: 17
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HGVS dbSNP
NM_014714.4(IFT140):c.1525-1G>A
NM_014714.4(IFT140):c.1862delinsAGA (p.Arg621fs)
NM_014714.4(IFT140):c.1901+1G>T
NM_014714.4(IFT140):c.2068-2A>G
NM_014714.4(IFT140):c.2176C>G (p.Pro726Ala) rs1057518064
NM_014714.4(IFT140):c.2598C>G (p.Tyr866Ter) rs144513458
NM_014714.4(IFT140):c.2650C>G (p.Arg884Gly) rs554196965
NM_014714.4(IFT140):c.2655del (p.Trp885fs)
NM_014714.4(IFT140):c.2656C>T (p.Gln886Ter) rs1567330535
NM_014714.4(IFT140):c.2767_2768+2del
NM_014714.4(IFT140):c.2896G>A (p.Glu966Lys)
NM_014714.4(IFT140):c.3250_3253dup (p.Val1085fs) rs766084603
NM_014714.4(IFT140):c.3874-1G>A
NM_014714.4(IFT140):c.3916dup (p.Ala1306fs) rs587776909
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) rs1002670900
NM_014714.4(IFT140):c.3943GCCAAG[2] (p.1315AK[2]) rs746697405
NM_014714.4(IFT140):c.4040+1G>A

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