ClinVar Miner

List of variants in gene ADA reported as likely benign for T-B- severe combined immunodeficiency

Included ClinVar conditions (13):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_000022.2(ADA):c.22G>A (p.Asp8Asn) rs73598374
NM_000022.4(ADA):c.*173G>C rs11906526
NM_000022.4(ADA):c.239A>G (p.Lys80Arg) rs11555566
NM_000022.4(ADA):c.390G>A (p.Val130=) rs61737144
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000022.4(ADA):c.525G>A (p.Gln175=) rs769506264
NM_000022.4(ADA):c.606+10G>A rs201045221
NM_000022.4(ADA):c.639C>T (p.Val213=) rs575603724
NM_000022.4(ADA):c.642C>T (p.His214=) rs562055008
NM_000022.4(ADA):c.663C>T (p.Ala221=) rs553639716
NM_000022.4(ADA):c.679-6C>T rs375562913
NM_000022.4(ADA):c.6C>T (p.Ala2=) rs767788896
NM_001322050.1(ADA):c.-390G>A rs36216718

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