List of variants in gene COL1A2 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_000089.4(COL1A2):c.1658G>A (p.Gly553Asp)	rs72658137
NM_000089.4(COL1A2):c.2314G>A (p.Gly772Ser)	rs72658185
NM_000089.4(COL1A2):c.2845G>A (p.Gly949Ser)	rs72659312
NM_000089.4(COL1A2):c.3080G>A (p.Gly1027Glu)	rs72659323
NM_000089.4(COL1A2):c.739-2A>T	rs72656382
NM_000089.4(COL1A2):c.767G>T (p.Gly256Val)	rs67525025
NM_000089.4(COL1A2):c.983G>T (p.Gly328Val)	rs72656396

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