List of variants in gene combination EP300, LOC126863158 reported as likely pathogenic for bone disorder

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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_001429.4(EP300):c.2960del (p.Pro987fs)
NM_001429.4(EP300):c.2998-1G>A
NM_001429.4(EP300):c.2998-3_2998-2del	rs2145740556
NM_001429.4(EP300):c.3067del (p.Glu1022_Ile1023insTer)	rs2059050708
NM_001429.4(EP300):c.3135_3138del (p.Lys1046fs)	rs2059051273

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