List of variants in gene COL3A1 reported as pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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_000090.4(COL3A1):c.2096G>T (p.Gly699Val)	rs587779706
NM_000090.4(COL3A1):c.2102del (p.Pro701fs)	rs1559058551
NM_000090.4(COL3A1):c.3112G>C (p.Gly1038Arg)	rs1559061706
NM_000090.4(COL3A1):c.755G>T (p.Gly252Val)	rs587779464
NM_000090.4(COL3A1):c.811C>T (p.Arg271Ter)	rs1057521106

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