ClinVar Miner

List of variants in gene GJB1 reported as uncertain significance for D-2-hydroxyglutaric aciduria 1

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln)	rs786204123

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