ClinVar Miner

List of variants reported as uncertain significance for Ullrich congenital muscular dystrophy by Molecular Genetics, Royal Melbourne Hospital

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.6408G>C (p.Arg2136Ser)	rs781675126	0.00002
NM_004369.4(COL6A3):c.5276C>G (p.Ala1759Gly)	rs150200531

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