ClinVar Miner

List of variants in gene combination ANKH, LOC100130744, OTULIN reported as likely benign for Chondrocalcinosis 2; Craniometaphyseal dysplasia, autosomal dominant

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)

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_054027.6(ANKH):c.1237G>A (p.Ala413Thr)	rs112513380	0.00167
NM_054027.6(ANKH):c.1338C>T (p.Ile446=)	rs756749018	0.00009

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