ClinVar Miner

List of variants in gene EP300 reported as likely pathogenic for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Included ClinVar conditions (3):
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Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.4(EP300):c.2064dup (p.Pro689fs) rs1601617062
NM_001429.4(EP300):c.3731_3733TTG[1] (p.Val1245del) rs1555910602
NM_001429.4(EP300):c.4173G>C (p.Arg1391Ser) rs1464734494
NM_001429.4(EP300):c.4232C>T (p.Thr1411Ile) rs1601633708
NM_001429.4(EP300):c.4371_4376del (p.Ile1457_Lys1459delinsMet) rs1555911316
NM_001429.4(EP300):c.4452+5G>T rs1555911334
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.5492G>C (p.Arg1831Thr) rs1601639958
NM_001429.4(EP300):c.6001C>T (p.Pro2001Ser) rs1210404526
NM_001429.4(EP300):c.6196C>T (p.Gln2066Ter) rs1555912238
NM_001429.4(EP300):c.6574_6585del (p.Gln2192_Gln2195del) rs875989807
NM_001429.4(EP300):c.6691del (p.Met2231fs) rs1601641819

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