List of variants in gene COL1A2 reported as likely pathogenic by Genetics Department, Polish Mother's Memorial Hospital Research Institute

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: 14

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HGVS	dbSNP	gnomAD frequency
NC_000007.14:g.(?_94402140)_(94406279_?)del
NM_000089.4(COL1A2):c.1001G>A (p.Gly334Asp)	rs1584319418
NM_000089.4(COL1A2):c.1081G>T (p.Gly361Cys)	rs1791894410
NM_000089.4(COL1A2):c.1216_1218del (p.Gly406del)	rs1791907178
NM_000089.4(COL1A2):c.1667G>T (p.Gly556Val)	rs1584322737
NM_000089.4(COL1A2):c.2295+5G>A
NM_000089.4(COL1A2):c.2873G>T (p.Gly958Val)
NM_000089.4(COL1A2):c.3215G>T (p.Gly1072Val)	rs1584330959
NM_000089.4(COL1A2):c.431A>G (p.Asp144Gly)	rs1584316181
NM_000089.4(COL1A2):c.739G>T (p.Gly247Cys)	rs1064794058
NM_000089.4(COL1A2):c.802G>A (p.Gly268Arg)	rs1584318953
NM_000089.4(COL1A2):c.875G>A (p.Gly292Asp)	rs1131692167
NM_000089.4(COL1A2):c.892G>A (p.Gly298Ser)	rs72656389
NM_000089.4(COL1A2):c.910G>A (p.Gly304Ser)	rs1054264002

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