ClinVar Miner

List of variants in gene CREBBP reported as likely pathogenic by HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology

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Gene type:
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Total variants: 4
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HGVS dbSNP
NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val) rs869312714
NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr) rs1567263529
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter) rs199821421
NM_004380.3(CREBBP):c.85+1G>A rs1597099388

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