List of variants in gene BMPER reported as pathogenic for Diaphanospondylodysostosis

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_001365308.1(BMPER):c.1078+5G>A	rs559550154	0.00001
NM_001365308.1(BMPER):c.925C>T (p.Gln309Ter)	rs387906992	0.00001
NM_001365308.1(BMPER):c.1109C>T (p.Pro370Leu)	rs387906993
NM_001365308.1(BMPER):c.1638T>A (p.Cys546Ter)	rs387906994
NM_001365308.1(BMPER):c.26_35delinsAGACCAGAGCGGCG (p.Ala9fs)	rs2128599896
NM_001365308.1(BMPER):c.410T>A (p.Val137Asp)	rs1554300601

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