List of variants in gene combination COL5A1, LOC101448202 reported as 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: 6

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.*1125A>T	rs1134170	0.66610
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=)	rs2228559	0.03652
NM_000093.5(COL5A1):c.5068-7T>C	rs113256540	0.01472
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met)	rs2229817	0.00346
NM_000093.5(COL5A1):c.*733C>A	rs3196378
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)	rs2228560

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