ClinVar Miner

List of variants in gene CC2D2A reported as likely pathogenic by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

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Total variants: 20
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.1339del (p.Ala447fs) rs386833745
NM_001080522.2(CC2D2A):c.1537T>A (p.Trp513Arg) rs386833746
NM_001080522.2(CC2D2A):c.2486+1G>C rs386833747
NM_001080522.2(CC2D2A):c.2773C>T (p.Arg925Ter) rs386833748
NM_001080522.2(CC2D2A):c.3084del (p.Lys1029fs) rs386833749
NM_001080522.2(CC2D2A):c.3145C>G (p.Arg1049Gly) rs386833750
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.3341C>T (p.Thr1114Met) rs386833752
NM_001080522.2(CC2D2A):c.3399-3C>A rs386833753
NM_001080522.2(CC2D2A):c.3522_3523insTG (p.His1175fs) rs386833754
NM_001080522.2(CC2D2A):c.3544T>C (p.Trp1182Arg) rs386833755
NM_001080522.2(CC2D2A):c.3584del (p.Phe1195fs) rs386833756
NM_001080522.2(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001080522.2(CC2D2A):c.3893T>A (p.Val1298Asp) rs386833758
NM_001080522.2(CC2D2A):c.3975+4_3975+7delAGTA rs386833759
NM_001080522.2(CC2D2A):c.4179+1delG rs386833760
NM_001080522.2(CC2D2A):c.4496+2T>A rs386833762
NM_001080522.2(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763
NM_001080522.2(CC2D2A):c.676_678GAA[3] (p.Glu229del) rs386833764
NM_001080522.2(CC2D2A):c.834del (p.Leu279fs) rs386833765

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