ClinVar Miner

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

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Total variants: 6
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.2683C>T (p.Gln895Ter) rs764719093
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061
NM_001080522.2(CC2D2A):c.4179+1del rs386833760
NM_001080522.2(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001080522.2(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763

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