List of variants in gene combination COL5A1, LOC101448202 reported as benign by Ambry Genetics

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.4560C>T (p.Ile1520=)	rs2228559	0.03652
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=)	rs61729481	0.01170
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.5270C>T (p.Thr1757Met)	rs2229817	0.00346
NM_000093.5(COL5A1):c.4788G>C (p.Gly1596=)	rs138436047	0.00116
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=)	rs149959668	0.00034
NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=)	rs542783734	0.00005
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)	rs2228560
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=)	rs2228560

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