List of variants in gene MBTPS1 reported as likely pathogenic for Spondyloepiphyseal dysplasia, kondo-fu type

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_003791.4(MBTPS1):c.2255G>T (p.Gly752Val)	rs967208601	0.00001
NM_003791.4(MBTPS1):c.2831+5G>T	rs377109607
NM_003791.4(MBTPS1):c.2896C>T (p.Arg966Ter)	rs1223135985

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