ClinVar Miner

List of variants in gene combination IFT140, LOC105371046 studied for not specified

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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_014714.4(IFT140):c.-17G>C rs1894649 0.44364
NM_014714.4(IFT140):c.635-12G>C rs12447357 0.18304
NM_014714.4(IFT140):c.1192G>A (p.Val398Ile) rs34762152 0.08326
NM_014714.4(IFT140):c.322G>A (p.Val108Met) rs146128830 0.00695
NM_014714.4(IFT140):c.1524+3A>G rs149791451 0.00552
NM_014714.4(IFT140):c.1336A>G (p.Ile446Val) rs139619013 0.00196
NM_014714.4(IFT140):c.-4C>T rs140403660 0.00112
NM_014714.4(IFT140):c.758G>A (p.Arg253Gln) rs141993139 0.00081
NM_014714.4(IFT140):c.634+6G>C rs368229365 0.00011
NM_014714.4(IFT140):c.37G>T (p.Asp13Tyr) rs554065722 0.00009
NM_014714.4(IFT140):c.212C>T (p.Pro71Leu) rs772757427 0.00002
NM_014714.4(IFT140):c.386T>G (p.Leu129Trp) rs773768491 0.00001
NM_014714.4(IFT140):c.472C>T (p.Arg158Trp) rs755315693 0.00001
NM_014714.4(IFT140):c.248G>A (p.Gly83Glu) rs2142041731
NM_014714.4(IFT140):c.571T>G (p.Ser191Ala) rs2141912232
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro) rs4786350

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