ClinVar Miner

List of variants in gene IFT140 reported by EGL Genetic Diagnostics, Eurofins Clinical Diagnostics

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Gene type:
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Total variants: 28
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HGVS dbSNP
NM_014714.4(IFT140):c.*2G>A rs144879630
NM_014714.4(IFT140):c.1541T>A (p.Leu514His) rs150903791
NM_014714.4(IFT140):c.1541_1542delinsAA (p.Leu514Gln) rs886043802
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834
NM_014714.4(IFT140):c.1559C>T (p.Thr520Ile) rs1321089981
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.2360A>G (p.Asp787Gly) rs144938800
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.2551G>A (p.Val851Met) rs754753583
NM_014714.4(IFT140):c.2617G>A (p.Asp873Asn) rs560840162
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.3210G>A (p.Ala1070=) rs372233286
NM_014714.4(IFT140):c.3675G>T (p.Leu1225=) rs759998867
NM_014714.4(IFT140):c.3711C>T (p.Phe1237=) rs146172074
NM_014714.4(IFT140):c.3830G>A (p.Arg1277Gln) rs756683299
NM_014714.4(IFT140):c.3874-10A>C rs761503137
NM_014714.4(IFT140):c.3988G>A (p.Ala1330Thr) rs200699325
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.4040+10C>T rs138364426
NM_014714.4(IFT140):c.4208G>A (p.Arg1403Gln) rs113216558

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