ClinVar Miner

List of variants reported as pathogenic by Hacettepe Dept. of Bioinformatics Rare Diseases Research Center, Institute of Health Sciences

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_013254.4(TBK1):c.1318C>T (p.Arg440Ter) rs769588220

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