ClinVar Miner

List of variants in gene combination IFT80, TRIM59-IFT80 reported by Dan Cohn Lab, University Of California Los Angeles

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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020800.3(IFT80):c.721G>C (p.Gly241Arg) rs138004478 0.00043
NM_020800.3(IFT80):c.1093A>G (p.Thr365Ala) rs140202230 0.00023
NM_020800.3(IFT80):c.1561C>T (p.Leu521Phe) rs1553753582
NM_020800.3(IFT80):c.487_490del (p.Leu163fs) rs1553764834
NM_020800.3(IFT80):c.572T>A (p.Ile191Asn) rs372576954

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