ClinVar Miner

List of variants in gene CREBBP reported by OMIM

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Gene type:
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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.1069C>T (p.Gln357Ter) rs121434625
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.3524A>G (p.Tyr1175Cys) rs28937315
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.3837-2A>T rs1567277287
NM_004380.3(CREBBP):c.406C>T (p.Gln136Ter) rs121434624
NM_004380.3(CREBBP):c.4133G>C (p.Arg1378Pro) rs121434626
NM_004380.3(CREBBP):c.4404_4405del (p.Gly1469fs) rs2151330140
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

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