List of variants in gene COL3A1 reported as pathogenic by Color Diagnostics, LLC DBA Color Health

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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000090.4(COL3A1):c.1347+1G>A	rs397509370
NM_000090.4(COL3A1):c.1684C>T (p.Arg562Ter)	rs375737772
NM_000090.4(COL3A1):c.1714C>T (p.Arg572Ter)
NM_000090.4(COL3A1):c.3325C>T (p.Arg1109Ter)	rs112371422
NM_000090.4(COL3A1):c.3460dup (p.Ser1154fs)	rs2153503975
NM_000090.4(COL3A1):c.4072C>T (p.Arg1358Ter)	rs794728057
NM_000090.4(COL3A1):c.547G>A (p.Gly183Ser)	rs121912926

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