ClinVar Miner

List of variants reported as likely benign for Rubinstein-Taybi syndrome due to CREBBP mutations by Mendelics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly) rs778915687 0.00013
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu) rs201480900 0.00011
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_004380.3(CREBBP):c.2383_2400dup (p.Pro795_Pro800dup) rs1596895167
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252

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