ClinVar Miner

List of variants studied for Severe combined immunodeficiency due to DCLRE1C deficiency; Histiocytic medullary reticulosis

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Total variants: 3
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HGVS dbSNP
NM_001033855.3(DCLRE1C):c.1556C>T (p.Pro519Leu) rs542791233
NM_001033855.3(DCLRE1C):c.1733A>G (p.Tyr578Cys) rs778823769
NM_001033855.3(DCLRE1C):c.241C>T (p.Arg81Ter) rs121908156

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