ClinVar Miner

List of variants reported as likely pathogenic for Severe combined immunodeficiency due to ADA deficiency by Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine

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Total variants: 2
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NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338

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