ClinVar Miner

List of variants in gene CD2AP reported as likely benign by Illumina Laboratory Services, Illumina

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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_012120.2(CD2AP):c.*3047G>A rs116607853 0.00826
NM_012120.3(CD2AP):c.1673C>T (p.Ala558Val) rs146444716 0.00074
NM_012120.3(CD2AP):c.992T>A (p.Leu331His) rs140188898 0.00074
NM_012120.3(CD2AP):c.730-7A>G rs368514132 0.00009
NM_012120.3(CD2AP):c.1404C>T (p.Thr468=) rs145347609 0.00003
NM_012120.3(CD2AP):c.1651A>G (p.Thr551Ala) rs200024855 0.00001
NM_012120.3(CD2AP):c.*1430dup rs145649247
NM_012120.3(CD2AP):c.-167_-165del rs533900030
NM_012120.3(CD2AP):c.-55_-54insAGG rs560930115
NM_012120.3(CD2AP):c.1188C>G (p.Thr396=) rs147254896

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