ClinVar Miner

List of variants in gene CC2D2A reported as likely pathogenic for Joubert syndrome 1

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP
NC_000004.11:g.15589466_15589468delGAA rs794729225
NM_001080522.2(CC2D2A):c.3975+4_3975+7del rs386833759

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