List of variants in gene CREBBP reported as likely pathogenic for Menke-Hennekam syndrome 1

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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: 8

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del)	rs1555471931
NM_004380.3(CREBBP):c.5168G>T (p.Cys1723Phe)
NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr)	rs1567263529
NM_004380.3(CREBBP):c.5356C>G (p.Arg1786Gly)
NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser)	rs1064794963
NM_004380.3(CREBBP):c.5558A>C (p.Gln1853Pro)
NM_004380.3(CREBBP):c.5609CCA[1] (p.Thr1871del)	rs2151309510
NM_004380.3(CREBBP):c.5615T>C (p.Met1872Thr)	rs879255381

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