ClinVar Miner

List of variants in gene IFT140 studied for Retinal dystrophy

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Total variants: 18
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HGVS dbSNP
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737
NM_014714.4(IFT140):c.1574G>C (p.Cys525Ser) rs112545558
NM_014714.4(IFT140):c.1862delinsAGA (p.Arg621fs)
NM_014714.4(IFT140):c.1984G>A (p.Val662Ile)
NM_014714.4(IFT140):c.2243A>G (p.His748Arg)
NM_014714.4(IFT140):c.2399+1G>T rs376586707
NM_014714.4(IFT140):c.2607C>G (p.Cys869Trp)
NM_014714.4(IFT140):c.2655del (p.Trp885fs)
NM_014714.4(IFT140):c.2767_2768+2del
NM_014714.4(IFT140):c.2797G>A (p.Glu933Lys) rs1259402740
NM_014714.4(IFT140):c.2896G>A (p.Glu966Lys)
NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr)
NM_014714.4(IFT140):c.3581A>G (p.Gln1194Arg)
NM_014714.4(IFT140):c.3713C>T (p.Ala1238Val)
NM_014714.4(IFT140):c.3767C>T (p.Ser1256Phe)
NM_014714.4(IFT140):c.3939C>A (p.Cys1313Ter) rs1002670900
NM_014714.4(IFT140):c.4040+1G>A
NM_014714.4(IFT140):c.4208GGC[4] (p.Arg1405dup) rs754312950

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