ClinVar Miner

List of variants studied for Joubert syndrome 9 by Genetic Services Laboratory, University of Chicago

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437

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