ClinVar Miner

Variants in gene ADSL with conflicting interpretations "uncertain significance" and "pathogenic"

Submission 1 (uncertain significance) minimum review status: Submission 1 (uncertain significance) method:
Submission 2 (pathogenic) minimum review status: Submission 2 (pathogenic) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 5
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HGVS dbSNP gnomAD frequency
NM_000026.4(ADSL):c.1264G>T (p.Asp422Tyr) rs119450943 0.00002
NM_000026.4(ADSL):c.1339T>C (p.Ser447Pro) rs777821034 0.00001
NM_000026.4(ADSL):c.153+1G>T rs1555903969
NM_000026.4(ADSL):c.502G>A (p.Val168Ile) rs1385675650
NM_000026.4(ADSL):c.581G>A (p.Arg194His) rs755359802

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