List of variants in gene COL5A1 reported as uncertain significance by Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.2114C>T (p.Pro705Leu)	rs375456811	0.00006
NM_000093.5(COL5A1):c.2065C>T (p.Pro689Ser)	rs943838033	0.00001
NM_000093.5(COL5A1):c.515T>A (p.Val172Asp)	rs1554781678

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