ClinVar Miner

List of variants studied for Joubert syndrome by Institute of Human Genetics, University Hospital of Duesseldorf

Included ClinVar conditions (97):
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.8462-1G>C rs151279194 0.00060
NM_001384732.1(CPLANE1):c.4006C>T (p.Arg1336Trp) rs367543061 0.00002
NM_001378615.1(CC2D2A):c.3688C>T (p.Arg1230Ter) rs1022325907 0.00001
NM_001384732.1(CPLANE1):c.7588+3A>G rs1777654334 0.00001

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