List of variants in gene COL3A1 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_000090.4(COL3A1):c.1457G>T (p.Gly486Val)	rs1688274077
NM_000090.4(COL3A1):c.1662+1G>A	rs587779535
NM_000090.4(COL3A1):c.1744G>A (p.Gly582Ser)	rs121912923
NM_000090.4(COL3A1):c.3050G>T (p.Gly1017Val)
NM_000090.4(COL3A1):c.3527G>T (p.Gly1176Val)	rs1553509726

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