List of variants in gene CREBBP reported by Centre de Biologie Pathologie Génétique, Centre Hospitalier Universitaire de Lille

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.905G>A (p.Ser302Asn)	rs200154055	0.00019
NM_004380.3(CREBBP):c.2438C>T (p.Pro813Leu)	rs150767375	0.00004
NM_004380.3(CREBBP):c.3836+7A>T	rs1259742748	0.00001
NM_004380.3(CREBBP):c.6126G>T (p.Met2042Ile)	rs1052723403	0.00001
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala)	rs143247685
NM_004380.3(CREBBP):c.3442C>G (p.Gln1148Glu)	rs2052626228
NM_004380.3(CREBBP):c.3779+1G>C	rs587783483
NM_004380.3(CREBBP):c.4134-4T>A	rs2052155482
NM_004380.3(CREBBP):c.6104del (p.Leu2035fs)	rs2051830234
NM_004380.3(CREBBP):c.6624_6635del (p.Gln2213_Gln2216del)	rs763108828
NM_004380.3(CREBBP):c.7002G>C (p.Gln2334His)	rs2051794294

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