List of variants in gene combination COL5A1, LOC101448202 reported as benign by PreventionGenetics, part of Exact Sciences

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.4955-28T>C	rs7868111	0.71059
NM_000093.5(COL5A1):c.4608+31T>C	rs9697186	0.65324
NM_000093.5(COL5A1):c.4447-45G>A	rs3811147	0.04567
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=)	rs2228559	0.03652
NM_000093.5(COL5A1):c.4955-16C>T	rs112712705	0.01710
NM_000093.5(COL5A1):c.5067+20C>G	rs112600748	0.01689
NM_000093.5(COL5A1):c.5068-7T>C	rs113256540	0.01472
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=)	rs61729481	0.01170
NM_000093.5(COL5A1):c.*14C>T	rs12553247	0.00580
NM_000093.5(COL5A1):c.5137-11T>C	rs183495554	0.00512
NM_000093.5(COL5A1):c.5137-12C>T	rs191758714	0.00488
NM_000093.5(COL5A1):c.4955-48G>A	rs60879388	0.00480
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met)	rs2229817	0.00346
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=)	rs149959668	0.00034
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)	rs2228560
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=)	rs2228560

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