ClinVar Miner

List of variants reported as uncertain significance for Severe combined immunodeficiency due to ADA deficiency by Illumina Clinical Services Laboratory,Illumina

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Total variants: 26
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HGVS dbSNP
NM_000022.4(ADA):c.*152C>T rs560858565
NM_000022.4(ADA):c.*162G>A
NM_000022.4(ADA):c.*174T>A rs886056706
NM_000022.4(ADA):c.-10C>G rs886056709
NM_000022.4(ADA):c.-28G>C
NM_000022.4(ADA):c.-67C>T
NM_000022.4(ADA):c.115C>G (p.Pro39Ala)
NM_000022.4(ADA):c.145G>A (p.Val49Ile)
NM_000022.4(ADA):c.21C>T (p.Phe7=) rs925528695
NM_000022.4(ADA):c.226C>T (p.Arg76Trp) rs121908736
NM_000022.4(ADA):c.282C>T (p.Gly94=)
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394
NM_000022.4(ADA):c.445C>A (p.Arg149=) rs121908733
NM_000022.4(ADA):c.446G>T (p.Arg149Leu)
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343
NM_000022.4(ADA):c.594C>T (p.Val198=) rs886056708
NM_000022.4(ADA):c.61T>G (p.Ser21Ala) rs139350872
NM_000022.4(ADA):c.642C>T (p.His214=) rs562055008
NM_000022.4(ADA):c.672A>G (p.Val224=)
NM_000022.4(ADA):c.679-8C>T rs886056707
NM_000022.4(ADA):c.688A>C (p.Ile230Leu)
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729
NM_000022.4(ADA):c.899T>G (p.Phe300Cys)
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719
NM_000022.4(ADA):c.941A>G (p.Asp314Gly)
NM_001322050.1(ADA):c.-412G>A

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