ClinVar Miner

List of variants reported as benign for Severe combined immunodeficiency due to ADA deficiency

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Total variants: 15
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HGVS dbSNP
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374
NM_000022.4(ADA):c.1079-7C>T rs551934402
NM_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242
NM_000022.4(ADA):c.192G>A (p.Lys64=) rs144168646
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566
NM_000022.4(ADA):c.36= (p.Val12=) rs394105
NM_000022.4(ADA):c.390G>A (p.Val130=) rs61737144
NM_000022.4(ADA):c.402C>T (p.Gly134=) rs146921882
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000022.4(ADA):c.534A>G (p.Val178=) rs244076
NM_000022.4(ADA):c.606+10G>A rs201045221
NM_000022.4(ADA):c.822G>A (p.Pro274=) rs562095440
NM_000022.4(ADA):c.834T>C (p.His278=) rs116962828
NM_000022.4(ADA):c.95+9A>G rs765216
NM_001322050.1(ADA):c.-390G>A rs36216718

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