ClinVar Miner

List of variants in gene combination CYP2U1, SGMS2 reported as pathogenic for calvarial doughnut lesions with bone fragility and spondylometaphyseal dysplasia

Included ClinVar conditions (1):

Calvarial doughnut lesions with bone fragility and spondylometaphyseal 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: 2

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HGVS	dbSNP	gnomAD frequency
NM_001375905.1(SGMS2):c.185T>G (p.Ile62Ser)	rs1560667512
NM_001375905.1(SGMS2):c.191T>G (p.Met64Arg)	rs1560667521

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