ClinVar Miner

List of variants in gene DYNC1H1 reported as likely pathogenic for Lower limb muscle weakness

Minimum submission review status:		Collection method:
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_001376.5(DYNC1H1):c.3347T>C (p.Val1116Ala)	rs1595605449

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