ClinVar Miner

List of variants in gene combination ADA, LOC107303343 reported as pathogenic for severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency

Included ClinVar conditions (2):
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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725 0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724 0.00001
NC_000020.11:g.(?_44651555)_(44651627_?)del
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter) rs1419063255
NM_000022.4(ADA):c.2T>G (p.Met1Arg)
NM_000022.4(ADA):c.33+1G>A rs587776534
NM_000022.4(ADA):c.33+1G>C rs587776534
NM_000022.4(ADA):c.33+2_33+104del rs2145366792
NM_000022.4(ADA):c.34-11_55del rs1230022655
NM_000022.4(ADA):c.49del (p.His17fs)
NM_000022.4(ADA):c.7C>T (p.Gln3Ter) rs1057520217
NM_000022.4(ADA):c.95+1G>A rs778343059

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