List of variants in gene CREBBP reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.2641C>T (p.Gln881Ter)
NM_004380.3(CREBBP):c.3623dup (p.Gln1209fs)	rs2052611239
NM_004380.3(CREBBP):c.4393G>A (p.Gly1465Arg)	rs2052127299
NM_004380.3(CREBBP):c.4394G>A (p.Gly1465Glu)	rs1555473491
NM_004380.3(CREBBP):c.4621del (p.Glu1541fs)	rs2151327825
NM_004380.3(CREBBP):c.5439C>G (p.Asn1813Lys)	rs372253007
NM_004380.3(CREBBP):c.5599C>T (p.Arg1867Trp)	rs398124148
NM_004380.3(CREBBP):c.5602C>T (p.Arg1868Trp)	rs886039491
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln)	rs1567263168

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