ClinVar Miner

List of variants reported as likely pathogenic for Ullrich congenital muscular dystrophy by NeuroMeGen, Hospital Clinico Santiago de Compostela

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_001848.3(COL6A1):c.202C>T (p.Arg68Cys)	rs137964147	0.00057
NM_001848.3(COL6A1):c.1483C>T (p.Pro495Ser)	rs1569518677

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