ClinVar Miner

List of variants in gene CC2D2A reported as pathogenic by GeneDx

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Total variants: 9
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NM_001080522.2(CC2D2A):c.1370T>A (p.Leu457Ter) rs1131691659
NM_001080522.2(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399
NM_001080522.2(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_020785.2(CC2D2A):c.282del (p.Gln94fs) rs1064793618

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