ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 21 by OMIM

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Total variants: 11
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NM_001291339.1(CSPP1):c.1209_1212del (p.Glu405fs) rs587777145
NM_024790.6(CSPP1):c.2244_2245del (p.Glu750fs) rs587777139
NM_024790.6(CSPP1):c.2280del (p.Glu761fs) rs587777140
NM_024790.6(CSPP1):c.2320C>T (p.Arg774Ter) rs587777138
NM_024790.6(CSPP1):c.2527_2528del (p.Met843fs) rs587777143
NM_024790.6(CSPP1):c.2773C>T (p.Arg925Ter) rs537456518
NM_024790.6(CSPP1):c.2953+1G>A rs587777142
NM_024790.6(CSPP1):c.3212dup (p.Tyr1071Ter) rs587777141
NM_024790.6(CSPP1):c.363_364del (p.His121fs) rs1554562278
NM_024790.6(CSPP1):c.652C>T (p.Gln218Ter) rs587777146
NM_024790.6(CSPP1):c.658C>T (p.Arg220Ter) rs375113643

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