List of variants in gene combination COL5A1, LOC101448202 reported as likely benign by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.4968C>T (p.Val1656=)	rs201871481	0.00012
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=)	rs200348547	0.00008
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met)	rs375076580	0.00007
NM_000093.5(COL5A1):c.4536C>T (p.Ser1512=)	rs367711669	0.00004
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=)	rs863223481	0.00002
NM_000093.5(COL5A1):c.4464C>A (p.Ile1488=)	rs148669237
NM_000093.5(COL5A1):c.4464C>T (p.Ile1488=)	rs148669237
NM_000093.5(COL5A1):c.4650A>T (p.Pro1550=)	rs778312075
NM_000093.5(COL5A1):c.4692C>T (p.Gly1564=)	rs61735501
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)	rs143859495

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