ClinVar Miner

List of variants in gene ADA reported as likely benign for Severe combined immunodeficiency due to ADA deficiency

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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_000022.4(ADA):c.*173G>C rs11906526
NM_000022.4(ADA):c.*282C>T rs188755077
NM_000022.4(ADA):c.*4C>T
NM_000022.4(ADA):c.1008A>G (p.Pro336=) rs762614678
NM_000022.4(ADA):c.1020G>A (p.Lys340=) rs761572884
NM_000022.4(ADA):c.1065T>C (p.Pro355=) rs371814756
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394
NM_000022.4(ADA):c.381C>T (p.Asp127=) rs7344760
NM_000022.4(ADA):c.384G>A (p.Glu128=) rs572092463
NM_000022.4(ADA):c.387G>A (p.Val129=) rs1288730009
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000022.4(ADA):c.479-9C>T rs761848284
NM_000022.4(ADA):c.525G>A (p.Gln175=) rs769506264
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343
NM_000022.4(ADA):c.606+10G>A rs201045221
NM_000022.4(ADA):c.621C>T (p.Ser207=) rs373256688
NM_000022.4(ADA):c.639C>T (p.Val213=) rs575603724
NM_000022.4(ADA):c.642C>T (p.His214=) rs562055008
NM_000022.4(ADA):c.645C>T (p.Ala215=) rs748671151
NM_000022.4(ADA):c.660G>A (p.Ser220=) rs147038410
NM_000022.4(ADA):c.663C>T (p.Ala221=) rs553639716
NM_000022.4(ADA):c.679-6C>T rs375562913
NM_000022.4(ADA):c.6C>T (p.Ala2=) rs767788896
NM_000022.4(ADA):c.714C>T (p.His238=) rs577317154
NM_000022.4(ADA):c.777C>T (p.Phe259=) rs772309012
NM_000022.4(ADA):c.780+7G>A rs371862936
NM_000022.4(ADA):c.864T>G (p.Ala288=) rs146614184
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719
NM_000022.4(ADA):c.937C>A (p.Arg313=) rs79249850
NM_000022.4(ADA):c.975+8G>A rs192148185

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