ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.*21G>C rs1134634
NM_001080522.2(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095
NM_001080522.2(CC2D2A):c.124-6C>T rs1861049
NM_001080522.2(CC2D2A):c.156C>T (p.Ser52=) rs1861050
NM_001080522.2(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627
NM_001080522.2(CC2D2A):c.685_687delGAA (p.Glu229del) rs386833764
NM_001080522.2(CC2D2A):c.777C>T (p.His259=) rs2286976

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