ClinVar Miner

List of variants in gene CC2D2A reported as likely pathogenic by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 3
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NM_001080522.2(CC2D2A):c.1339del (p.Ala447fs) rs386833745
NM_001080522.2(CC2D2A):c.4384T>C (p.Trp1462Arg) rs368720062
NM_001080522.2(CC2D2A):c.4407C>G (p.Ser1469Arg) rs587779732

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