ClinVar Miner

List of variants in gene combination CENPJ, RNF17 reported as uncertain significance for Seckel syndrome

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_018451.5(CENPJ):c.*594_*595dup rs570468323 0.00658
NM_018451.5(CENPJ):c.*743ACTT[5] rs543069738
NM_018451.5(CENPJ):c.*83_*85del rs747303248

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