ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 21 by UW Hindbrain Malformation Research Program,University of Washington

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Total variants: 17
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NM_001291339.1(CSPP1):c.1398_1401AGAA[2] (p.Lys469fs) rs761382780
NM_001291339.1(CSPP1):c.1406_1412AGAAGAA[1] (p.Glu472fs) rs863225191
NM_001291339.1(CSPP1):c.1406_1412AGAAGAA[3] (p.Glu474fs) rs863225191
NM_024790.6(CSPP1):c.1132C>T (p.Arg378Ter) rs374703898
NM_024790.6(CSPP1):c.1682+1G>T rs863225193
NM_024790.6(CSPP1):c.2244_2245del (p.Glu750fs) rs587777139
NM_024790.6(CSPP1):c.2260C>T (p.Arg754Ter) rs771203308
NM_024790.6(CSPP1):c.2280del (p.Glu761fs) rs587777140
NM_024790.6(CSPP1):c.2527_2528del (p.Met843fs) rs587777143
NM_024790.6(CSPP1):c.2708del (p.Asn903fs) rs863225190
NM_024790.6(CSPP1):c.2953+1G>A rs587777142
NM_024790.6(CSPP1):c.3205+1G>A rs773954226
NM_024790.6(CSPP1):c.3212dup (p.Tyr1071Ter) rs587777141
NM_024790.6(CSPP1):c.363_364del (p.His121fs) rs1554562278
NM_024790.6(CSPP1):c.457del (p.Arg153fs) rs863225192
NM_024790.6(CSPP1):c.658C>T (p.Arg220Ter) rs375113643
NM_024790.6(CSPP1):c.950+1G>C rs863225194

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