ClinVar Miner

List of variants in gene combination IFT80, TRIM59-IFT80 reported as uncertain significance for connective tissue disorder

Included ClinVar conditions (343):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_020800.3(IFT80):c.807T>C (p.Thr269=) rs372419950 0.00014
NM_020800.3(IFT80):c.13A>C (p.Ile5Leu) rs184680258 0.00001
NM_020800.3(IFT80):c.546G>A (p.Leu182=) rs543233802
NM_020800.3(IFT80):c.550-4A>T rs769891425
NM_020800.3(IFT80):c.670A>T (p.Asn224Tyr) rs2108360263

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