ClinVar Miner

List of variants reported as pathogenic for Ullrich congenital muscular dystrophy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (13):

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.175C>T (p.Arg59Ter)	rs398124119	0.00003
NM_004369.4(COL6A3):c.6930+5G>A	rs749037028

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