ClinVar Miner

List of variants in gene combination EXT2, LOC126861201 reported as pathogenic for Exostoses, multiple, type 2

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)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NC_000011.10:g.(?_44144227)_(44198038_?)del
NM_207122.2(EXT2):c.1484del (p.Asn495fs)

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