ClinVar Miner

List of variants reported as benign for Bethlem myopathy 1A by Medical Molecular Genetics Department, Human Genetics and Genome Research Division, National Research Centre

Included ClinVar conditions (8):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_004369.4(COL6A3):c.8009C>T (p.Ala2670Val)	rs142851023	0.00061
NM_001849.4(COL6A2):c.1787C>T (p.Thr596Ile)

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