ClinVar Miner

List of variants in gene ADA reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Gene type:
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000022.4(ADA):c.534A>G (p.Val178=) rs244076 0.24494
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566 0.05947
NM_000022.4(ADA):c.390G>A (p.Val130=) rs61737144 0.04145
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.632G>A (p.Arg211His) rs121908716 0.00009
NM_000022.4(ADA):c.757C>T (p.Arg253Trp) rs201944717 0.00005
NM_000022.4(ADA):c.312G>A (p.Pro104=) rs765878819 0.00001
NM_000022.4(ADA):c.367G>A (p.Asp123Asn) rs1458135388
NM_000022.4(ADA):c.607-7dup

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