ClinVar Miner

List of variants in gene CREBBP reported by Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics

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Total variants: 9
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HGVS dbSNP
NM_001079846.1(CREBBP):c.1537C>A (p.Leu513Ile) rs61753381
NM_001079846.1(CREBBP):c.2458C>T (p.Pro820Ser) rs145733598
NM_001079846.1(CREBBP):c.2564C>T (p.Ser855Leu) rs142047649
NM_001079846.1(CREBBP):c.2614A>G (p.Thr872Ala) rs143247685
NM_001079846.1(CREBBP):c.3227del (p.Pro1076fs) rs1057520072
NM_001079846.1(CREBBP):c.383C>G (p.Ser128Cys) rs55790011
NM_001079846.1(CREBBP):c.4406T>C (p.Leu1469Pro) rs1057520191
NM_001079846.1(CREBBP):c.5605G>A (p.Ala1869Thr) rs199990883
NM_001079846.1(CREBBP):c.6571G>A (p.Gly2191Ser) rs139688311

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