ClinVar Miner

List of variants in gene COL2A1 studied for otospondylomegaepiphyseal dysplasia, autosomal dominant

Included ClinVar conditions (3):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001844.5(COL2A1):c.1129G>A (p.Ala377Thr)	rs1045330263
NM_001844.5(COL2A1):c.3714C>A (p.Tyr1238Ter)	rs1481453913

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