List of variants in gene combination COL5A1, LOC101448202 reported as likely benign by Genome Diagnostics Laboratory, The Hospital for Sick Children

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=)	rs61729481	0.01170
NM_000093.5(COL5A1):c.4699-6C>T	rs113090154	0.00923
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=)	rs61729558	0.00781
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn)	rs61729495	0.00394
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=)	rs149959668	0.00034
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=)	rs148006741	0.00010
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=)	rs200348547	0.00008
NM_000093.5(COL5A1):c.5100G>A (p.Pro1700=)	rs371875408	0.00002
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)	rs143859495

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