List of variants in gene COL5A1 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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: 15

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala)	rs376144196	0.00015
NM_000093.5(COL5A1):c.191C>T (p.Thr64Met)	rs777376620	0.00009
NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val)	rs369000939	0.00004
NM_000093.5(COL5A1):c.2485-11C>T	rs756350498	0.00001
NM_000093.5(COL5A1):c.1318A>C (p.Thr440Pro)
NM_000093.5(COL5A1):c.1402G>A (p.Glu468Lys)	rs754948598
NM_000093.5(COL5A1):c.2187+19G>A
NM_000093.5(COL5A1):c.2433T>C (p.Gly811=)	rs1554798918
NM_000093.5(COL5A1):c.2485-14T>C
NM_000093.5(COL5A1):c.277+15C>A
NM_000093.5(COL5A1):c.2998G>A (p.Gly1000Ser)	rs765082093
NM_000093.5(COL5A1):c.3608G>A (p.Arg1203Gln)	rs1838524385
NM_000093.5(COL5A1):c.401G>A (p.Arg134His)	rs1442400098
NM_000093.5(COL5A1):c.4392+18T>C
NM_000093.5(COL5A1):c.539T>C (p.Ile180Thr)

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