ClinVar Miner

Variants with conflicting interpretations "pathogenic" from Centre for Inherited Metabolic Diseases, Karolinska University Hospital and "likely pathogenic" from ClinGen ACADVL Variant Curation Expert Panel, ClinGen

Minimum review status of the submission from Centre for Inherited Metabolic Diseases, Karolinska University Hospital: Collection method of the submission from Centre for Inherited Metabolic Diseases, Karolinska University Hospital:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2
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HGVS dbSNP gnomAD frequency
NM_000018.4(ACADVL):c.1405C>T (p.Arg469Trp) rs113994170 0.00001
NM_000018.4(ACADVL):c.1468G>C (p.Ala490Pro) rs759775666 0.00001

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