ClinVar Miner

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

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Total variants: 40
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HGVS dbSNP
ADA, 3.25-KB DEL, ALU-RELATED
ADA, 7-BP INS, IVS8AS
ADA, IVS2DS, G-A, +1
GRCh37/hg19 20q13.12(chr20:43264839-43265435)
NC_000020.11:g.(?_44636217)_(44636298_?)del
NC_000020.11:g.(?_44651555)_(44651627_?)del
NC_000020.11:g.(?_44651565)_(44651768_?)del
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.367del (p.Asp123fs) rs758073965
NM_000022.4(ADA):c.385G>A (p.Val129Met) rs121908731
NM_000022.4(ADA):c.396dup (p.Val133fs) rs1555844617
NM_000022.4(ADA):c.424C>T (p.Arg142Ter) rs780014431
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725
NM_000022.4(ADA):c.466C>T (p.Arg156Cys) rs121908735
NM_000022.4(ADA):c.478+1G>A rs761242509
NM_000022.4(ADA):c.529G>A (p.Val177Met) rs121908719
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer) rs886041796
NM_000022.4(ADA):c.632G>A (p.Arg211His) rs121908716
NM_000022.4(ADA):c.645_648dup (p.Glu217fs)
NM_000022.4(ADA):c.646G>A (p.Gly216Arg) rs121908723
NM_000022.4(ADA):c.690dup (p.Leu231fs)
NM_000022.4(ADA):c.703C>T (p.Arg235Trp) rs778809577
NM_000022.4(ADA):c.704G>A (p.Arg235Gln) rs79281338
NM_000022.4(ADA):c.705del (p.Leu236fs)
NM_000022.4(ADA):c.716G>A (p.Gly239Asp) rs1312320956
NM_000022.4(ADA):c.736C>T (p.Gln246Ter) rs1555844120
NM_000022.4(ADA):c.7C>T (p.Gln3Ter) rs1057520217
NM_000022.4(ADA):c.872C>T (p.Ser291Leu) rs121908721
NM_000022.4(ADA):c.879_898del (p.Thr294fs)
NM_000022.4(ADA):c.911T>G (p.Leu304Arg) rs199422327
NM_000022.4(ADA):c.95+1G>A rs778343059
NM_000022.4(ADA):c.956_960del (p.Glu319fs) rs771266745
NM_000022.4(ADA):c.970del (p.Arg324fs)
NM_000022.4(ADA):c.[455T>C;478+6T>C]

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