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

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: 22

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.5136+40A>G	rs183298179	0.00678
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr)	rs113452150	0.00092
NM_000093.5(COL5A1):c.4814C>T (p.Ala1605Val)	rs145175057	0.00034
NM_000093.5(COL5A1):c.5349C>T (p.Arg1783=)	rs140031713	0.00022
NM_000093.5(COL5A1):c.4954+16G>A	rs370938164	0.00015
NM_000093.5(COL5A1):c.4968C>T (p.Val1656=)	rs201871481	0.00012
NM_000093.5(COL5A1):c.4659G>A (p.Pro1553=)	rs368782334	0.00010
NM_000093.5(COL5A1):c.5136+55A>G	rs374114460	0.00009
NM_000093.5(COL5A1):c.5137-7C>T	rs376750863	0.00008
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=)	rs200348547	0.00008
NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=)	rs147434147	0.00007
NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=)	rs142886387	0.00007
NM_000093.5(COL5A1):c.*8C>T	rs375921390	0.00005
NM_000093.5(COL5A1):c.5460C>T (p.Phe1820=)	rs768460206	0.00002
NM_000093.5(COL5A1):c.4614G>A (p.Pro1538=)	rs762698462	0.00001
NM_000093.5(COL5A1):c.5206G>A (p.Ala1736Thr)	rs753339980	0.00001
NM_000093.5(COL5A1):c.5307C>T (p.Ser1769=)	rs754379329	0.00001
NM_000093.5(COL5A1):c.4954+17dup	rs757067716
NM_000093.5(COL5A1):c.4962C>T (p.Tyr1654=)	rs998985081
NM_000093.5(COL5A1):c.5001C>T (p.Phe1667=)	rs886038236
NM_000093.5(COL5A1):c.5136+120G>A
NM_000093.5(COL5A1):c.5136+77G>T

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