ClinVar Miner

List of variants in gene combination ADA, LOC107303343 reported as uncertain significance for Severe combined immunodeficiency due to ADA deficiency

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Total variants: 8
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NM_000022.4(ADA):c.115C>G (p.Pro39Ala)
NM_000022.4(ADA):c.145G>A (p.Val49Ile)
NM_000022.4(ADA):c.218+2dup rs1555845122
NM_000022.4(ADA):c.57C>A (p.Asp19Glu) rs762695968
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724
NM_000022.4(ADA):c.61T>G (p.Ser21Ala) rs139350872
NM_000022.4(ADA):c.89A>G (p.Tyr30Cys)

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