List of variants in gene CREB3L1 reported as uncertain significance 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: 5

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HGVS	dbSNP	gnomAD frequency
NM_052854.4(CREB3L1):c.599A>T (p.Asp200Val)	rs187725533	0.00364
NM_052854.4(CREB3L1):c.284C>T (p.Ala95Val)	rs190038304	0.00108
NM_052854.4(CREB3L1):c.488C>G (p.Pro163Arg)	rs747612049
NM_052854.4(CREB3L1):c.627del (p.Ser210fs)
NM_052854.4(CREB3L1):c.667C>T (p.Arg223Cys)

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