ClinVar Miner

List of variants 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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ClinVar version:
Total variants: 24
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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_000022.4(ADA):c.534A>G (p.Val178=) rs244076 0.24494
NM_000022.4(ADA):c.607-48C>T rs929089 0.13138
NM_000022.4(ADA):c.780+36G>A rs6031679 0.08474
NM_000022.4(ADA):c.1078+87A>G rs45567037 0.07559
NM_000022.4(ADA):c.1078+99C>T rs45567734 0.07507
NM_000022.4(ADA):c.975+68G>A rs6031678 0.07197
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566 0.05947
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.390G>A (p.Val130=) rs61737144 0.04145
NM_000022.4(ADA):c.36= (p.Val12=) rs394105 0.01530
NM_000022.4(ADA):c.834T>C (p.His278=) rs116962828 0.00639
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
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.402C>T (p.Gly134=) rs146921882 0.00153
NM_000022.4(ADA):c.606+10G>A rs201045221 0.00058
NM_000022.4(ADA):c.192G>A (p.Lys64=) rs144168646 0.00009
NM_000022.4(ADA):c.1079-7C>T rs551934402 0.00003
NM_000022.4(ADA):c.33+17dup rs1246752878
NM_000022.4(ADA):c.34-7del rs1297398786
NM_000022.4(ADA):c.822G>A (p.Pro274=) rs562095440

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