ClinVar Miner

List of variants in gene combination ADA, LOC107303343 reported as benign 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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Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000022.4(ADA):c.36G>A (p.Val12=) rs394105 0.98470
NM_000022.4(ADA):c.95+165A>G rs967807 0.90213
NM_000022.3(ADA):c.-101G>A rs36216718 0.04373
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374 0.04175
NM_000022.4(ADA):c.36= (p.Val12=) rs394105 0.01530
NM_000022.4(ADA):c.95+9A>G rs765216 0.00319
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242 0.00282
NM_000022.4(ADA):c.192G>A (p.Lys64=) rs144168646 0.00009
NM_000022.4(ADA):c.33+17dup rs1246752878
NM_000022.4(ADA):c.34-7del rs1297398786

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