ClinVar Miner

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

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Total variants: 11
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HGVS dbSNP
NC_000020.11:g.(?_44636217)_(44636298_?)dup
NM_000022.4(ADA):c.1019_1020AG[1] (p.Arg341fs)
NM_000022.4(ADA):c.218+1G>A rs528390681
NM_000022.4(ADA):c.221G>T (p.Gly74Val) rs199422328
NM_000022.4(ADA):c.311C>T (p.Pro104Leu) rs1452483770
NM_000022.4(ADA):c.377C>A (p.Pro126Gln)
NM_000022.4(ADA):c.454C>A (p.Leu152Met) rs121908728
NM_000022.4(ADA):c.479-2del rs1600921786
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740
NM_000022.4(ADA):c.678+5G>C
NM_000022.4(ADA):c.911T>G (p.Leu304Arg) rs199422327

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