ClinVar Miner

List of variants in gene CEP120 reported as uncertain significance for Short-rib thoracic dysplasia 13 with or without polydactyly; Joubert syndrome 31

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001375405.1(CEP120):c.1684A>G (p.Thr562Ala)	rs147277049	0.00028
NM_001375405.1(CEP120):c.2606G>A (p.Arg869His)	rs771132137	0.00003

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