ClinVar Miner

List of variants studied for Joubert syndrome by Prenatal Diagnosis Center, The Sixth Medical Center of PLA General Hospital

Included ClinVar conditions (87):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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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
NM_001384732.1(CPLANE1):c.7691-5_7691-4del rs1775783657

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