ClinVar Miner

List of variants in gene IFT140 reported by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

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Total variants: 8
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HGVS dbSNP
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834
NM_014714.4(IFT140):c.1968T>C (p.Ser656=) rs8048410
NM_014714.4(IFT140):c.2661G>A (p.Glu887=) rs1287846996
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.3270+19T>C rs2745176
NM_014714.4(IFT140):c.3693G>A (p.Thr1231=) rs144028766
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) rs146172074

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