List of variants in gene COL2A1 reported as likely pathogenic for Kniest dysplasia

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: 6

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1122+1G>C	rs1565686170
NM_001844.5(COL2A1):c.1266+5G>C	rs1064794958
NM_001844.5(COL2A1):c.1680+2dup	rs2136567546
NM_001844.5(COL2A1):c.1937dup (p.Ala647fs)	rs2136558900
NM_001844.5(COL2A1):c.870+5_870+7delinsCCTTTGTGAGAAGGTTCATTC
NM_001844.5(COL2A1):c.970-8T>G	rs1165582049

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