ClinVar Miner

List of variants reported as uncertain significance for Ullrich congenital muscular dystrophy by New York Genome Center

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_004370.6(COL12A1):c.5839C>A (p.Pro1947Thr)	rs191233787	0.00021
NM_004370.6(COL12A1):c.6961A>G (p.Lys2321Glu)	rs1765724096

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