ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 8 by OMIM

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Total variants: 4

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HGVS	dbSNP
NM_001174150.2(ARL13B):c.236G>A (p.Arg79Gln)	rs121912606
NM_001174150.2(ARL13B):c.246G>A (p.Trp82Ter)	rs121912607
NM_001174150.2(ARL13B):c.257A>G (p.Tyr86Cys)	rs863225430
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys)	rs121912608

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