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

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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.3779+1G>A	rs587783483
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)	rs267606752
NM_004380.3(CREBBP):c.5128T>C (p.Cys1710Arg)	rs1567265203
NM_004380.3(CREBBP):c.5170G>A (p.Glu1724Lys)	rs1567265131
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln)	rs1131691326
NM_004380.3(CREBBP):c.5602C>T (p.Arg1868Trp)	rs886039491
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)	rs797045037
NM_004380.3(CREBBP):c.6043dup (p.Ser2015fs)	rs2151306514

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