ClinVar Miner

List of variants in gene ADA, LOC107303343 studied for Severe combined immunodeficiency due to ADA deficiency

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Total variants: 22
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HGVS dbSNP
NC_000020.11:g.(?_44651555)_(44651627_?)del
NM_000022.4(ADA):c.108C>T (p.Ile36=) rs748611869
NM_000022.4(ADA):c.110C>T (p.Ala37Val) rs151336936
NM_000022.4(ADA):c.115C>G (p.Pro39Ala)
NM_000022.4(ADA):c.144C>T (p.Asn48=) rs189751145
NM_000022.4(ADA):c.145G>A (p.Val49Ile)
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.218+1G>A rs528390681
NM_000022.4(ADA):c.218+2T>G rs1555845120
NM_000022.4(ADA):c.218+2dup rs1555845122
NM_000022.4(ADA):c.36= (p.Val12=) rs394105
NM_000022.4(ADA):c.43C>G (p.His15Asp) rs121908725
NM_000022.4(ADA):c.44A>T (p.His15Leu) rs1209280928
NM_000022.4(ADA):c.57C>A (p.Asp19Glu) rs762695968
NM_000022.4(ADA):c.58G>A (p.Gly20Arg) rs121908724
NM_000022.4(ADA):c.61T>G (p.Ser21Ala) rs139350872
NM_000022.4(ADA):c.89A>G (p.Tyr30Cys)
NM_000022.4(ADA):c.95+1G>A rs778343059
NM_000022.4(ADA):c.95+9A>G rs765216
NM_000022.4(ADA):c.96-3C>T
NM_000022.4(ADA):c.96-4C>T rs764177495

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