ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 17 by Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001384732.1(CPLANE1):c.1371+86_1371+87insTC	rs1796703260
NM_001384732.1(CPLANE1):c.1383_1384dup (p.Gly462fs)	rs1796678879
NM_001384732.1(CPLANE1):c.7691-107_7691-105del	rs1775821411

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