ClinVar Miner

List of variants in gene combination IFT140, LOC105371046 reported as uncertain significance for Retinal dystrophy

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.925G>A (p.Glu309Lys) rs141993646 0.00027
NM_014714.4(IFT140):c.22C>G (p.Gln8Glu) rs145267929 0.00014
NM_014714.4(IFT140):c.920G>A (p.Arg307Gln) rs780666037 0.00006
NM_014714.4(IFT140):c.1255G>A (p.Ala419Thr) rs769337607 0.00004
NM_014714.4(IFT140):c.526G>A (p.Gly176Ser) rs201849591 0.00004
NM_014714.4(IFT140):c.1368C>T (p.Val456=) rs561657958 0.00003
NM_014714.4(IFT140):c.1487C>T (p.Thr496Met) rs764537319 0.00003
NM_014714.4(IFT140):c.215C>T (p.Thr72Met) rs774892063 0.00003
NM_014714.4(IFT140):c.886G>A (p.Gly296Arg) rs574450870 0.00003
NM_014714.4(IFT140):c.1309G>A (p.Ala437Thr) rs373106880 0.00002
NM_014714.4(IFT140):c.56C>T (p.Ser19Leu) rs766380874 0.00002
NM_014714.4(IFT140):c.634+5G>A rs1323647622 0.00001
NM_014714.4(IFT140):c.635-11T>G rs778676917 0.00001
NM_014714.4(IFT140):c.883G>A (p.Val295Ile) rs762792738 0.00001
NM_014714.4(IFT140):c.1221G>C (p.Arg407=)
NM_014714.4(IFT140):c.1445G>A (p.Cys482Tyr) rs1596402406
NM_014714.4(IFT140):c.1456G>A (p.Val486Met)
NM_014714.4(IFT140):c.1514G>A (p.Arg505Gln)
NM_014714.4(IFT140):c.187C>T (p.Arg63Trp)
NM_014714.4(IFT140):c.327C>A (p.Leu109=)
NM_014714.4(IFT140):c.340A>G (p.Ser114Gly)
NM_014714.4(IFT140):c.359C>G (p.Ser120Cys) rs1457067377
NM_014714.4(IFT140):c.674A>G (p.Gln225Arg)
NM_014714.4(IFT140):c.676G>T (p.Val226Leu)
NM_014714.4(IFT140):c.797AAG[1] (p.Glu267del) rs2035068981
NM_014714.4(IFT140):c.836G>A (p.Arg279His) rs4786350
NM_014714.4(IFT140):c.83C>A (p.Pro28Gln)
NM_014714.4(IFT140):c.841G>T (p.Ala281Ser)
NM_014714.4(IFT140):c.992G>A (p.Cys331Tyr)

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