ClinVar Miner

List of variants studied for Joubert syndrome 21 by Genetic Services Laboratory,University of Chicago

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Total variants: 3
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NM_001291339.1(CSPP1):c.1209_1212del (p.Glu405fs) rs587777145
NM_024790.6(CSPP1):c.2205C>A (p.Tyr735Ter) rs1402669959
NM_024790.6(CSPP1):c.2814-9_2953+11del rs1554614893

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