ClinVar Miner

List of variants in gene MYL1 reported as likely pathogenic for congenital myopathy with reduced type 2 muscle fibers

Included ClinVar conditions (1):

Congenital myopathy with reduced type 2 muscle fibers

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)
		ClinVar version:

Total variants: 1

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HGVS	dbSNP	gnomAD frequency
NM_079420.3(MYL1):c.488T>G (p.Met163Arg)	rs1259220084

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