ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome 1 by Mendelics

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Total variants: 19
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HGVS dbSNP
NM_001079846.1(CREBBP):c.2564C>T (p.Ser855Leu) rs142047649
NM_001079846.1(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu)
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710
NM_001429.4(EP300):c.3143-1G>T
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter) rs565779970
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met)
NM_001429.4(EP300):c.3707dup (p.Asn1236fs)
NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr)
NM_001429.4(EP300):c.4026G>A (p.Arg1342=)
NM_001429.4(EP300):c.4692dup (p.Arg1565Ter)
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.7014_7028del (p.His2338_Pro2342del)
NM_004380.3(CREBBP):c.1694del (p.Gly565fs)
NM_004380.3(CREBBP):c.2383_2400dup (p.Pro795_Pro800dup)
NM_004380.3(CREBBP):c.283G>A (p.Val95Met)
NM_004380.3(CREBBP):c.3982+3A>T
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly)

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