ClinVar Miner

List of variants in gene combination ADA, LOC107303343 reported as likely 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: 11
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HGVS dbSNP gnomAD frequency
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.43C>G (p.His15Asp) rs121908725 0.00001
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724 0.00001
NM_000022.4(ADA):c.141_142del (p.Asn48fs)
NM_000022.4(ADA):c.187del (p.Ala63fs)
NM_000022.4(ADA):c.201C>G (p.Tyr67Ter) rs1419063255
NM_000022.4(ADA):c.218+1G>T
NM_000022.4(ADA):c.218+2T>G rs1555845120
NM_000022.4(ADA):c.44A>T (p.His15Leu) rs1209280928
NM_000022.4(ADA):c.83T>A (p.Leu28Ter)

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