ClinVar Miner

List of variants in gene CC2D2A studied for CC2D2A-Related Disorders

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Total variants: 36
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HGVS dbSNP
NM_001080522.2(CC2D2A):c.*1T>A rs199945435
NM_001080522.2(CC2D2A):c.-212T>C rs886059135
NM_001080522.2(CC2D2A):c.1041C>T (p.Asp347=) rs371086728
NM_001080522.2(CC2D2A):c.1401A>C (p.Pro467=) rs886059136
NM_001080522.2(CC2D2A):c.1713G>A (p.Met571Ile) rs886059137
NM_001080522.2(CC2D2A):c.1731G>A (p.Ser577=) rs376746356
NM_001080522.2(CC2D2A):c.1880G>A (p.Arg627Gln) rs752576142
NM_001080522.2(CC2D2A):c.1947G>A (p.Thr649=) rs756341605
NM_001080522.2(CC2D2A):c.1953C>T (p.Val651=) rs550913315
NM_001080522.2(CC2D2A):c.2056G>A (p.Val686Met) rs369476930
NM_001080522.2(CC2D2A):c.2339-10_2339-9delGT rs886059157
NM_001080522.2(CC2D2A):c.2486+9T>C rs768382177
NM_001080522.2(CC2D2A):c.2597A>G (p.Asn866Ser) rs199563573
NM_001080522.2(CC2D2A):c.2731T>C (p.Phe911Leu) rs368886216
NM_001080522.2(CC2D2A):c.2734A>G (p.Arg912Gly) rs574421639
NM_001080522.2(CC2D2A):c.2773C>T (p.Arg925Ter) rs386833748
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399
NM_001080522.2(CC2D2A):c.3200C>T (p.Ser1067Leu) rs886059181
NM_001080522.2(CC2D2A):c.3333T>C (p.Val1111=) rs753770061
NM_001080522.2(CC2D2A):c.3398+7A>G rs772784324
NM_001080522.2(CC2D2A):c.3399-15T>C rs181612746
NM_001080522.2(CC2D2A):c.3670C>T (p.Arg1224Trp) rs369648324
NM_001080522.2(CC2D2A):c.3846A>T (p.Pro1282=) rs372292129
NM_001080522.2(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421
NM_001080522.2(CC2D2A):c.4496+2T>C
NM_001080522.2(CC2D2A):c.4659G>C (p.Gln1553His) rs375083236
NM_001080522.2(CC2D2A):c.4667A>T (p.Asp1556Val) rs201502401
NM_001080522.2(CC2D2A):c.4675-14T>A rs766203266
NM_001080522.2(CC2D2A):c.4688C>T (p.Pro1563Leu) rs886059186
NM_001080522.2(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700
NM_001080522.2(CC2D2A):c.541-5G>A rs369022150
NM_001080522.2(CC2D2A):c.717+11T>C rs184351317
NM_001080522.2(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001080522.2(CC2D2A):c.880G>C (p.Val294Leu) rs201986486
NM_001080522.2(CC2D2A):c.913C>T (p.Gln305Ter)
NM_001080522.2:c.3588delA

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