ClinVar Miner

List of variants in gene COL6A2 reported as pathogenic for Collagen 6-related myopathy

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: 2

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HGVS	dbSNP	gnomAD frequency
NM_001849.4(COL6A2):c.1970-9G>A	rs747900252	0.00007
NM_001849.4(COL6A2):c.1402C>T (p.Arg468Ter)	rs374669775	0.00001

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