ClinVar Miner

List of variants in gene ARL3 studied for ciliopathy

Included ClinVar conditions (273):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004311.4(ARL3):c.264+49_264+50del rs59504153 0.99810
NM_004311.4(ARL3):c.472T>G (p.Cys158Gly) rs778332463 0.00002
NM_004311.4(ARL3):c.445C>T (p.Arg149Cys) rs776901858 0.00001
NM_004311.4(ARL3):c.446G>A (p.Arg149His) rs770782663

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