ClinVar Miner

List of variants in gene CC2D2A reported as pathogenic for Joubert syndrome 9/15, digenic

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Total variants: 2
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001080522.2(CC2D2A):c.4340A>C (p.Glu1447Ala) rs387907058

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