ClinVar Miner

List of variants studied for craniodiaphyseal dysplasia, autosomal dominant

Included ClinVar conditions (2):

Craniodiaphyseal dysplasia, autosomal dominant
Craniodiaphyseal dysplasia, autosomal dominant; Sclerosteosis 1

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_025237.3(SOST):c.289G>T (p.Ala97Ser)
NM_025237.3(SOST):c.61G>A (p.Val21Met)	rs387907169
NM_025237.3(SOST):c.61G>T (p.Val21Leu)	rs387907169

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