ClinVar Miner

List of variants studied for calvarial doughnut lesions-bone fragility syndrome

Included ClinVar conditions (2):

Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia
Calvarial doughnut lesions-bone fragility syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001375905.1(SGMS2):c.171G>A (p.Pro57=)	rs150784082	0.00379
NM_001375905.1(SGMS2):c.148C>T (p.Arg50Ter)	rs1560667389
NM_001375905.1(SGMS2):c.641T>C (p.Ile214Thr)

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