List of variants in gene combination CYP2U1, SGMS2 reported as uncertain significance for calvarial doughnut lesions-bone fragility syndrome

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: 4

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HGVS	dbSNP	gnomAD frequency
NM_001375905.1(SGMS2):c.714_715insAT (p.Phe239fs)	rs779248083	0.00005
NM_001375905.1(SGMS2):c.737G>A (p.Arg246His)	rs199981148	0.00004
NM_001375905.1(SGMS2):c.641T>C (p.Ile214Thr)	rs1480491131
NM_001375905.1(SGMS2):c.899T>G (p.Leu300Trp)

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