List of variants in gene COL5A1 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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: 5

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HGVS	dbSNP	gnomAD frequency
NM_000093.5(COL5A1):c.1502del (p.Pro501fs)	rs1085307855
NM_000093.5(COL5A1):c.1989+1G>A	rs1836462685
NM_000093.5(COL5A1):c.2159dup (p.Gly721fs)	rs863223469
NM_000093.5(COL5A1):c.3060del (p.Gly1021fs)	rs1838166153
NM_000093.5(COL5A1):c.3397C>T (p.Arg1133Ter)	rs886042045

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