List of variants in gene COL5A1 reported as uncertain significance for Connective tissue disorder

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: 9

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.3292G>A (p.Ala1098Thr)	rs772521985	0.00067
NM_000093.5(COL5A1):c.3983C>G (p.Pro1328Arg)	rs140797509	0.00019
NM_000093.5(COL5A1):c.1350C>T (p.Gly450=)	rs576332528	0.00010
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu)	rs752334702	0.00008
NM_000093.5(COL5A1):c.3592G>A (p.Gly1198Ser)	rs372499629	0.00007
NM_000093.5(COL5A1):c.3595G>A (p.Glu1199Lys)	rs867211079	0.00001
NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile)	rs148146480
NM_000093.5(COL5A1):c.2802C>T (p.Gly934=)	rs1554801686
NM_000093.5(COL5A1):c.401G>A (p.Arg134His)	rs1442400098

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