ClinVar Miner

List of variants in gene combination ACKR3, COL6A3, COPS8 reported as uncertain significance for Bethlem myopathy 1

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 1
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HGVS dbSNP gnomAD frequency
NC_000002.12:g.(?_236573327)_(237388194_?)dup

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