List of variants in gene combination COL5A1, LOC101448202 reported as uncertain significance by Breakthrough Genomics, Breakthrough Genomics

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.5182A>G (p.Met1728Val)	rs138068984	0.00022
NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu)	rs761837954	0.00009
NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp)	rs558906147	0.00002
NM_000093.5(COL5A1):c.5294G>A (p.Arg1765His)	rs150608071	0.00002

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