ClinVar Miner

List of variants in gene IFT140, LOC126862260 studied for retinal disorder

Included ClinVar conditions (500):
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Gene type:
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Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.2768+184A>G rs2745178 0.97367
NM_014714.4(IFT140):c.2919C>T (p.Ala973=) rs2235640 0.19119
NM_014714.4(IFT140):c.2988T>C (p.Asn996=) rs78178397 0.00290
NM_014714.4(IFT140):c.3079G>A (p.Gly1027Arg) rs137995818 0.00236
NM_014714.4(IFT140):c.2829G>A (p.Pro943=) rs141779807 0.00038
NM_014714.4(IFT140):c.3033G>A (p.Ala1011=) rs148625428 0.00021
NM_014714.4(IFT140):c.2922G>A (p.Ala974=) rs201864536 0.00018
NM_014714.4(IFT140):c.2935G>A (p.Glu979Lys) rs146277966 0.00014
NM_014714.4(IFT140):c.2886G>A (p.Ala962=) rs201150342 0.00013
NM_014714.4(IFT140):c.3104G>A (p.Arg1035Gln) rs138596995 0.00013
NM_014714.4(IFT140):c.2987A>G (p.Asn996Ser) rs145645423 0.00010
NM_014714.4(IFT140):c.2844C>T (p.Tyr948=) rs777036003 0.00009
NM_014714.4(IFT140):c.2786C>T (p.Thr929Met) rs757585192 0.00007
NM_014714.4(IFT140):c.2876G>A (p.Arg959Gln) rs148240226 0.00007
NM_014714.4(IFT140):c.2780C>T (p.Ser927Leu) rs2040655109 0.00004
NM_014714.4(IFT140):c.2917G>A (p.Ala973Thr) rs369493147 0.00004
NM_014714.4(IFT140):c.3103C>T (p.Arg1035Trp) rs141818893 0.00003
NM_014714.4(IFT140):c.2797G>A (p.Glu933Lys) rs1259402740 0.00002
NM_014714.4(IFT140):c.2815T>C (p.Ser939Pro) rs145549969 0.00001
NM_014714.4(IFT140):c.2908G>A (p.Glu970Lys) rs143720412 0.00001
NM_014714.4(IFT140):c.2916C>T (p.Asp972=) rs148945612 0.00001
NM_014714.4(IFT140):c.2921C>T (p.Ala974Val) rs745576178 0.00001
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln) rs766316995 0.00001
NM_014714.4(IFT140):c.2772C>G (p.Tyr924Ter)
NM_014714.4(IFT140):c.2828C>T (p.Pro943Leu) rs200561100
NM_014714.4(IFT140):c.2834T>C (p.Leu945Pro) rs2141175065
NM_014714.4(IFT140):c.2896G>A (p.Glu966Lys) rs759898401
NM_014714.4(IFT140):c.2909_2920del (p.Glu970_Ala973del) rs1489901262
NM_014714.4(IFT140):c.2948del (p.Asp983fs) rs2141172226
NM_014714.4(IFT140):c.2963del (p.Val988fs)
NM_014714.4(IFT140):c.3003G>T (p.Ala1001=) rs151293332
NM_014714.4(IFT140):c.3014_3021del (p.Asn1005fs)
NM_014714.4(IFT140):c.3052C>T (p.Arg1018Cys) rs767290624
NM_014714.4(IFT140):c.3070G>T (p.Glu1024Ter) rs777889289
NM_014714.4(IFT140):c.3076G>T (p.Val1026Phe)
NM_014714.4(IFT140):c.3135G>A (p.Leu1045=)

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