ClinVar Miner

List of variants reported as pathogenic for Severe combined immunodeficiency due to CD70 deficiency

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001252.5(CD70):c.250del (p.Ser84fs)	rs1568431262
NM_001252.5(CD70):c.535C>T (p.Arg179Ter)	rs368303189
NM_001252.5(CD70):c.552CTT[1] (p.Phe186del)	rs1568431102

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