List of variants in gene combination COL5A1, LOC101448202 reported as pathogenic by GeneDx

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.4697dup (p.Glu1571fs)	rs1131691996
NM_000093.5(COL5A1):c.5031dup (p.Ser1678fs)	rs2132887747
NM_000093.5(COL5A1):c.5357dup (p.Asp1787fs)	rs863223475

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