List of variants in gene MBTPS1 reported as pathogenic for bone development disease

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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_003791.4(MBTPS1):c.285dup (p.Asp96Ter)	rs771258750	0.00001
NM_003791.4(MBTPS1):c.1064T>G (p.Val355Gly)	rs2151160106
NM_003791.4(MBTPS1):c.1094A>G (p.Asp365Gly)	rs1226321681
NM_003791.4(MBTPS1):c.1995C>G (p.Tyr665Ter)	rs1273822522
NM_003791.4(MBTPS1):c.2948G>A (p.Trp983Ter)	rs2085516391
NM_003791.4(MBTPS1):c.3157T>C (p.Ter1053Arg)	rs2151136903

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