ClinVar Miner

List of variants in gene CREBBP reported as uncertain significance by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.2505G>T (p.Met835Ile) rs759041100 0.00004
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met) rs542970560 0.00001
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr) rs750178517
NM_004380.3(CREBBP):c.2505G>A (p.Met835Ile) rs759041100
NM_004380.3(CREBBP):c.3892T>C (p.Tyr1298His) rs2052315739
NM_004380.3(CREBBP):c.5611A>C (p.Thr1871Pro) rs2051850835
NM_004380.3(CREBBP):c.6028G>A (p.Gly2010Arg) rs751739281
NM_004380.3(CREBBP):c.668G>C (p.Gly223Ala) rs2054806972

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