ClinVar Miner

List of variants in gene IFT140 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.4205T>C (p.Met1402Thr) rs202129528 0.00015
NM_014714.4(IFT140):c.4318C>T (p.Arg1440Cys) rs758535401 0.00007
NM_014714.4(IFT140):c.3989C>T (p.Ala1330Val) rs376151586 0.00001
NM_014714.4(IFT140):c.1771G>A (p.Ala591Thr) rs751413638
NM_014714.4(IFT140):c.2243A>G (p.His748Arg) rs2033204478
NM_014714.4(IFT140):c.2477A>T (p.Asn826Ile) rs1212997974
NM_014714.4(IFT140):c.3500C>T (p.Thr1167Ile)
NM_014714.4(IFT140):c.4213C>T (p.Arg1405Trp)

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