ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 8

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Total variants: 8
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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.393_396del (p.Gln132fs) rs1560002959
NM_001174150.2(ARL13B):c.461A>G (p.Asn154Ser) rs758972393
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys) rs121912608
NM_001174150.2(ARL13B):c.65T>G (p.Val22Gly) rs863225149
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169

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