List of variants in gene combination EP300, LOC126863158 reported as likely benign 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: 26

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HGVS	dbSNP	gnomAD frequency
NM_001429.4(EP300):c.2818-20T>G	rs375400973	0.00007
NM_001429.4(EP300):c.2997+14A>G	rs751131486	0.00007
NM_001429.4(EP300):c.3142+20C>T	rs763828488	0.00006
NM_001429.4(EP300):c.2818-5C>T	rs374518360	0.00001
NM_001429.4(EP300):c.2818-8C>G	rs781137042	0.00001
NM_001429.4(EP300):c.2917T>G (p.Ser973Ala)	rs780935417	0.00001
NM_001429.4(EP300):c.2974A>G (p.Thr992Ala)	rs775729787	0.00001
NM_001429.4(EP300):c.2975C>A (p.Thr992Asn)	rs760974878	0.00001
NM_001429.4(EP300):c.3123A>G (p.Pro1041=)	rs370454302	0.00001
NM_001429.4(EP300):c.3142+8T>C	rs775069230	0.00001
NM_001429.4(EP300):c.2818-18C>T	rs1236830903
NM_001429.4(EP300):c.2818-19C>A	rs778273598
NM_001429.4(EP300):c.2818-9T>C
NM_001429.4(EP300):c.2829A>G (p.Pro943=)	rs2517800316
NM_001429.4(EP300):c.2868T>C (p.Ser956=)	rs766451204
NM_001429.4(EP300):c.2876G>T (p.Ser959Ile)	rs1308182502
NM_001429.4(EP300):c.2898C>T (p.Ala966=)	rs2517800493
NM_001429.4(EP300):c.2900T>G (p.Ile967Ser)
NM_001429.4(EP300):c.2940C>T (p.Ala980=)	rs2517800579
NM_001429.4(EP300):c.2997+10G>A	rs2059048912
NM_001429.4(EP300):c.2998-13C>T	rs201289885
NM_001429.4(EP300):c.2998-3del	rs528974321
NM_001429.4(EP300):c.3003A>C (p.Lys1001Asn)
NM_001429.4(EP300):c.3138A>G (p.Lys1046=)	rs1173977482
NM_001429.4(EP300):c.3142+17A>T	rs1850871108
NM_001429.4(EP300):c.3142+9C>T

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