ClinVar Miner

List of variants in gene CC2D2A reported as pathogenic by EGL Genetic Diagnostics,Eurofins Clinical Diagnostics

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Total variants: 20
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.1017+1G>A rs200407856
NM_001080522.2(CC2D2A):c.1017dup (p.Glu340Argfs) rs797044636
NM_001080522.2(CC2D2A):c.1297_1299delinsAA (p.Gln433fs) rs1560166511
NM_001080522.2(CC2D2A):c.1666del (p.Glu555_Ile556insTer) rs773740057
NM_001080522.2(CC2D2A):c.1696G>T (p.Glu566Ter)
NM_001080522.2(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.3545G>A (p.Trp1182Ter) rs1560188288
NM_001080522.2(CC2D2A):c.3652C>T (p.Arg1218Ter) rs375278294
NM_001080522.2(CC2D2A):c.3774dup (p.Glu1259Ter) rs386833757
NM_001080522.2(CC2D2A):c.394C>T (p.Arg132Ter) rs377177061
NM_001080522.2(CC2D2A):c.4065+2T>C rs1179041639
NM_001080522.2(CC2D2A):c.4179+1G>A rs886044295
NM_001080522.2(CC2D2A):c.4179+1delG rs386833760
NM_001080522.2(CC2D2A):c.4295_4298del (p.Gly1431_Cys1432insTer) rs1560196436
NM_001080522.2(CC2D2A):c.4465_4468del (p.Asp1489fs) rs797045437
NM_001080522.2(CC2D2A):c.4489C>T (p.Gln1497Ter) rs1553845302
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001080522.2(CC2D2A):c.834del (p.Leu279fs) rs386833765
NM_020785.2(CC2D2A):c.305del (p.Gly102fs) rs1433294475

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