ClinVar Miner

List of variants reported as pathogenic for Severe combined immunodeficiency due to ADA deficiency by Counsyl

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Total variants: 5
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NM_000022.4(ADA):c.424C>T (p.Arg142Ter) rs780014431
NM_000022.4(ADA):c.478+1G>A rs761242509
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723
NM_000022.4(ADA):c.736C>T (p.Gln246Ter) rs1555844120
NM_000022.4(ADA):c.95+1G>A rs778343059

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