ClinVar Miner

List of variants in gene CC2D2A reported by CeGaT Praxis fuer Humangenetik Tuebingen

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Total variants: 12
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NM_001080522.2(CC2D2A):c.2348T>A (p.Phe783Tyr) rs374294064
NM_001080522.2(CC2D2A):c.247+448G>A rs1064797307
NM_001080522.2(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573
NM_001080522.2(CC2D2A):c.2844G>A (p.Arg948=) rs182369056
NM_001080522.2(CC2D2A):c.2993_2995AAG[2] (p.Glu1000del) rs764874938
NM_001080522.2(CC2D2A):c.3260C>T (p.Thr1087Ile) rs1577382579
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001080522.2(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635
NM_001080522.2(CC2D2A):c.4844_4847del rs863225175
NM_001080522.2(CC2D2A):c.647C>T (p.Ala216Val) rs768733110
NM_001080522.2(CC2D2A):c.868A>T (p.Ser290Cys) rs1553826739
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401

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