ClinVar Miner

List of variants in gene combination IFT122, LOC126806810 reported as likely benign for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln) rs61740161 0.07498
NM_052989.3(IFT122):c.2154C>T (p.His718=) rs116819033 0.01164
NM_052989.3(IFT122):c.2121T>C (p.His707=) rs763504971
NM_052989.3(IFT122):c.2127C>T (p.Ala709=)
NM_052989.3(IFT122):c.2148T>C (p.Ser716=) rs2108483305
NM_052989.3(IFT122):c.2163C>T (p.Leu721=)
NM_052989.3(IFT122):c.2181C>T (p.Thr727=) rs545131069
NM_052989.3(IFT122):c.2208+7T>C

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