ClinVar Miner

List of variants in gene CREBBP reported by Baylor Genetics

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met) rs369930675 0.00009
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr) rs759047530 0.00009
NM_004380.3(CREBBP):c.1418C>T (p.Pro473Leu) rs1185619320
NM_004380.3(CREBBP):c.2170T>A (p.Phe724Ile) rs2053094536
NM_004380.3(CREBBP):c.239C>G (p.Ser80Cys) rs1318683084
NM_004380.3(CREBBP):c.2701C>T (p.Pro901Ser)
NM_004380.3(CREBBP):c.3227C>T (p.Ser1076Phe) rs1476678901
NM_004380.3(CREBBP):c.3699-11C>A
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.3836C>G (p.Pro1279Arg) rs749189606
NM_004380.3(CREBBP):c.3839T>A (p.Phe1280Tyr)
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly) rs886041286
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del) rs1555471931
NM_004380.3(CREBBP):c.5242G>T (p.Gly1748Cys)
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val) rs797045037
NM_004380.3(CREBBP):c.5638C>T (p.Gln1880Ter)
NM_004380.3(CREBBP):c.5842C>A (p.Pro1948Thr) rs1231016252
NM_004380.3(CREBBP):c.6169C>T (p.Gln2057Ter)
NM_004380.3(CREBBP):c.7118C>T (p.Pro2373Leu) rs2051790513
NM_004380.3(CREBBP):c.7251G>A (p.Arg2417=) rs2051785711

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