ClinVar Miner

List of variants reported as not provided for otospondylomegaepiphyseal dysplasia, autosomal dominant by GenomeConnect, ClinGen

Included ClinVar conditions (3):

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu)	rs151319255	0.00019
NM_080680.3(COL11A2):c.2921C>T (p.Ala974Val)	rs376797260	0.00016
NM_080680.3(COL11A2):c.798+67C>T	rs772701006	0.00001

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