ClinVar Miner

List of variants reported as pathogenic for Joubert syndrome 15 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_018718.3(CEP41):c.33+2T>G rs1584916464
NM_018718.3(CEP41):c.423-2A>C rs781815473
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter) rs1584901211
NM_018718.3(CEP41):c.97+3_97+5del rs2117674119

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