ClinVar Miner

List of variants in gene combination IFT140, LOC105371046 reported as uncertain significance for not provided

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013 0.00196
NM_014714.4(IFT140):c.179G>A (p.Arg60Lys) rs148093208 0.00022
NM_014714.4(IFT140):c.410G>A (p.Arg137Gln) rs145718272 0.00021
NM_014714.4(IFT140):c.1272G>A (p.Pro424=) rs370562505 0.00014
NM_014714.4(IFT140):c.1428T>A (p.Ser476Arg) rs771030841 0.00007
NM_014714.4(IFT140):c.1040G>A (p.Arg347Gln) rs147556035 0.00006
NM_014714.4(IFT140):c.903-5T>G rs900599017 0.00004
NM_014714.4(IFT140):c.1321C>T (p.Arg441Cys) rs758986711 0.00001
NM_014714.4(IFT140):c.157G>A (p.Val53Met) rs776811329 0.00001
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp) rs773768491 0.00001
NM_014714.4(IFT140):c.422C>T (p.Thr141Met) rs527332087 0.00001
NM_014714.4(IFT140):c.883G>A (p.Val295Ile) rs762792738 0.00001
NM_014714.4(IFT140):c.910G>C (p.Asp304His) rs755311835 0.00001
NM_014714.4(IFT140):c.975G>T (p.Glu325Asp) rs1330112951 0.00001
NM_014714.4(IFT140):c.142G>A (p.Glu48Lys)
NM_014714.4(IFT140):c.238T>A (p.Trp80Arg) rs2035846628
NM_014714.4(IFT140):c.334A>C (p.Ser112Arg) rs780294580
NM_014714.4(IFT140):c.359C>T (p.Ser120Phe) rs1457067377
NM_014714.4(IFT140):c.497T>C (p.Leu166Pro) rs886042485
NM_014714.4(IFT140):c.557G>A (p.Trp186Ter) rs1567413573
NM_014714.4(IFT140):c.903-1G>A rs1567407044

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