ClinVar Miner

List of variants reported as likely pathogenic for severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000022.4(ADA):c.757C>T (p.Arg253Trp) rs201944717 0.00005
NM_000022.4(ADA):c.715G>A (p.Gly239Ser) rs777820729 0.00003
NM_000022.4(ADA):c.1A>G (p.Met1Val) rs1363043396 0.00001
NM_000022.4(ADA):c.218+1G>A rs528390681 0.00001
NM_000022.4(ADA):c.247G>A (p.Ala83Thr) rs776103734 0.00001
NM_000022.4(ADA):c.377C>A (p.Pro126Gln) rs1233957241 0.00001
NM_000022.4(ADA):c.536C>A (p.Ala179Asp) rs121908727 0.00001
NM_000022.4(ADA):c.780+1G>A rs746052951 0.00001
NC_000020.10:g.(?_43255077)_(43264949_?)dup
NC_000020.11:g.(?_44636217)_(44636298_?)dup
NM_000022.4(ADA):c.1078+2T>C
NM_000022.4(ADA):c.218+2T>G rs1555845120
NM_000022.4(ADA):c.221G>A (p.Gly74Asp)
NM_000022.4(ADA):c.301C>G (p.Arg101Gly) rs121908717
NM_000022.4(ADA):c.363-2A>G rs2145318314
NM_000022.4(ADA):c.385G>T (p.Val129Leu) rs121908731
NM_000022.4(ADA):c.44A>T (p.His15Leu) rs1209280928
NM_000022.4(ADA):c.455T>C (p.Leu152Pro) rs1568845361
NM_000022.4(ADA):c.460T>C (p.Cys154Arg)
NM_000022.4(ADA):c.467G>C (p.Arg156Pro) rs121908722
NM_000022.4(ADA):c.478+6T>C rs1555844600
NM_000022.4(ADA):c.479-23_479-2delinsTGGGACCAGCAT
NM_000022.4(ADA):c.479-2del rs1600921786
NM_000022.4(ADA):c.606+1G>T
NM_000022.4(ADA):c.631C>A (p.Arg211Ser)
NM_000022.4(ADA):c.780+1del rs2123517791
NM_000022.4(ADA):c.872C>G (p.Ser291Trp) rs121908721
NM_000022.4(ADA):c.890C>T (p.Pro297Leu) rs121908718
NM_000022.4(ADA):c.976-1_979del rs1441174171
NM_000022.4(ADA):c.976-34G>A rs1194494050

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