ClinVar Miner

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

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Total variants: 16
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HGVS dbSNP
ADA, 3.25-KB DEL, ALU-RELATED
ADA, 7-BP INS, IVS8AS
ADA, IVS2DS, G-A, +1
NM_000022.2(ADA):c.986C>T rs121908715
NM_000022.4(ADA):c.219-2A>G rs387906267
NM_000022.4(ADA):c.221G>T (p.Gly74Val) rs199422328
NM_000022.4(ADA):c.301C>T (p.Arg101Trp) rs121908717
NM_000022.4(ADA):c.302G>A (p.Arg101Gln) rs121908714
NM_000022.4(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.4(ADA):c.33+1G>C rs587776534
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735
NM_000022.4(ADA):c.478+1G>A rs761242509
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000022.4(ADA):c.911T>G (p.Leu304Arg) rs199422327

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