ClinVar Miner

List of variants studied for Joubert syndrome 8 by UW Hindbrain Malformation Research Program,University of Washington

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Total variants: 4
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NM_001174150.2(ARL13B):c.246G>A (p.Trp82Ter) rs121912607
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

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