ClinVar Miner

List of variants in gene CREBBP studied for See cases

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.105C>G (p.Asp35Glu) rs372495787 0.00001
GRCh37/hg19 16p13.3(chr16:3814227-3929941)x1
GRCh38/hg38 16p13.3(chr16:3726714-3759009)x1
GRCh38/hg38 16p13.3(chr16:3750305-3769722)x3
NM_004380.3(CREBBP):c.34C>A (p.Pro12Thr) rs2055490745
NM_004380.3(CREBBP):c.3974G>T (p.Ser1325Ile) rs760292945
NM_004380.3(CREBBP):c.5367C>G (p.Asn1789Lys) rs2151311363
NM_004380.3(CREBBP):c.5602C>T (p.Arg1868Trp) rs886039491
NM_004380.3(CREBBP):c.5603G>A (p.Arg1868Gln) rs1567263168
NM_004380.3(CREBBP):c.6111G>C (p.Arg2037Ser) rs1158351339
NM_004380.3(CREBBP):c.6113_6137dup (p.Ala2047fs) rs1596784713

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