ClinVar Miner

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

Included ClinVar conditions (1):
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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter) rs375113643 0.00004
NM_001382391.1(CSPP1):c.2275C>T (p.Arg759Ter) rs771203308 0.00002
NM_001382391.1(CSPP1):c.1697+1G>T rs863225193 0.00001
NM_001382391.1(CSPP1):c.1105C>T (p.Arg369Ter) rs374703898
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_001382391.1(CSPP1):c.2295del (p.Glu766fs) rs587777140
NM_001382391.1(CSPP1):c.2456_2459del (p.Lys819fs) rs761382780
NM_001382391.1(CSPP1):c.2463_2469del (p.Glu822fs) rs863225191
NM_001382391.1(CSPP1):c.2463_2469dup (p.Glu824fs) rs863225191
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs) rs587777143
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_001382391.1(CSPP1):c.2723del (p.Asn908fs) rs863225190
NM_001382391.1(CSPP1):c.2968+1G>A rs587777142
NM_001382391.1(CSPP1):c.3220+1G>A rs773954226
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter) rs587777141
NM_001382391.1(CSPP1):c.430del (p.Arg144fs) rs863225192
NM_001382391.1(CSPP1):c.923+1G>C rs863225194

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