List of variants in gene COL1A2 reported as likely pathogenic by GeneDx

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
NM_000089.4(COL1A2):c.2531G>C (p.Gly844Ala)	rs928361235	0.00001
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser)	rs1410254723	0.00001
NM_000089.4(COL1A2):c.1069_1070del (p.Ser357fs)	rs1131691888
NM_000089.4(COL1A2):c.1199G>A (p.Gly400Asp)
NM_000089.4(COL1A2):c.1576G>A (p.Gly526Arg)	rs72658129
NM_000089.4(COL1A2):c.1793G>C (p.Gly598Ala)	rs72658142
NM_000089.4(COL1A2):c.2095GCTGGTCCT[2] (p.699AGP[2])	rs72658162
NM_000089.4(COL1A2):c.226-2A>G	rs72656355
NM_000089.4(COL1A2):c.2533dup (p.Glu845fs)	rs1584328014
NM_000089.4(COL1A2):c.2584G>A (p.Gly862Ser)	rs1554398126
NM_000089.4(COL1A2):c.2738G>A (p.Gly913Asp)
NM_000089.4(COL1A2):c.3765del (p.Phe1256fs)	rs1584332692
NM_000089.4(COL1A2):c.401del (p.Pro134fs)	rs1057518136
NM_000089.4(COL1A2):c.432+1G>A	rs1554395431

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