ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 23 by UW Hindbrain Malformation Research Program, University of Washington

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_001329943.3(KIAA0586):c.1254-1G>C rs757350052 0.00008
NM_001329943.3(KIAA0586):c.3144G>A (p.Pro1048=) rs540255320 0.00002
NM_001329943.3(KIAA0586):c.704_705del (p.Gln235fs) rs770566897 0.00002
NM_001329943.3(KIAA0586):c.1000C>T (p.Gln334Ter) rs796052128
NM_001329943.3(KIAA0586):c.1271_1274delinsGA (p.Glu424fs) rs869312856
NM_001329943.3(KIAA0586):c.1538A>T (p.Asp513Val) rs796052129
NM_001329943.3(KIAA0586):c.1571_1575del (p.Leu524fs) rs863225203
NM_001329943.3(KIAA0586):c.643C>T (p.Gln215Ter) rs201097695

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