ClinVar Miner

Variants in gene ADA with conflicting interpretations "uncertain significance" and "likely benign"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 19
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HGVS dbSNP gnomAD frequency
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
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.384G>A (p.Glu128=) rs572092463 0.00030
NM_000022.4(ADA):c.975+8G>A rs192148185 0.00029
NM_000022.4(ADA):c.591T>A (p.His197Gln) rs142456343 0.00014
NM_000022.4(ADA):c.864T>G (p.Ala288=) rs146614184 0.00014
NM_000022.4(ADA):c.714C>T (p.His238=) rs577317154 0.00009
NM_000022.4(ADA):c.375C>G (p.Thr125=) rs766539394 0.00006
NM_000022.4(ADA):c.927G>A (p.Gln309=) rs139871719 0.00006
NM_000022.4(ADA):c.642C>T (p.His214=) rs562055008 0.00004
NM_000022.4(ADA):c.282C>T (p.Gly94=) rs771207375 0.00002
NM_000022.4(ADA):c.479-9C>T rs761848284 0.00001
NM_000022.4(ADA):c.672A>G (p.Val224=) rs753855163 0.00001
NM_000022.4(ADA):c.679-8C>T rs886056707 0.00001
NM_000022.4(ADA):c.941A>G (p.Asp314Gly) rs547569818 0.00001
NM_000022.4(ADA):c.445C>A (p.Arg149=) rs121908733
NM_000022.4(ADA):c.708G>A (p.Leu236=) rs757155433
NM_000022.4(ADA):c.825C>T (p.Asp275=) rs778167423

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