ClinVar Miner

List of variants in gene EP300 reported as pathogenic for Rubinstein-Taybi syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 29
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HGVS dbSNP
NC_000022.11:g.(?_41092585)_(41093099_41117186)del
NG_009817.1:g.(53614_59129)_(76522_78989)dup
NM_001429.3(EP300):c.104_107del (p.Ser35Tyrfs) rs886037664
NM_001429.3(EP300):c.1942C>T (p.Arg648Ter) rs137853039
NM_001429.3(EP300):c.2164dupC (p.Gln722Profs) rs879253873
NM_001429.3(EP300):c.2983G>T (p.Glu995Ter) rs1555909666
NM_001429.3(EP300):c.3070_3074delAAAGA (p.Lys1024Glyfs) rs1555909697
NM_001429.3(EP300):c.3163C>T (p.Arg1055Ter) rs886041830
NM_001429.3(EP300):c.3262-2A>G rs1555910114
NM_001429.3(EP300):c.3573T>A (p.Tyr1191Ter) rs565779970
NM_001429.3(EP300):c.3684_3687delAGAA (p.Lys1228Asnfs) rs1555910482
NM_001429.3(EP300):c.3728+5G>C rs1114167305
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.3(EP300):c.4511T>G (p.Phe1504Cys) rs1114167306
NM_001429.3(EP300):c.4585C>T (p.Arg1529Ter)
NM_001429.3(EP300):c.4763T>C (p.Met1588Thr) rs1057521737
NM_001429.3(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.3(EP300):c.4836dup (p.Val1613Cysfs) rs797045559
NM_001429.3(EP300):c.4933C>T (p.Arg1645Ter) rs139310551
NM_001429.3(EP300):c.4954_4957dup (p.Cys1653Tyrfs) rs1555912040
NM_001429.3(EP300):c.6627_6638delCCAGTTCCAGCA (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.3(EP300):c.6915_6918del (p.Asn2305Lysfs) rs797045560
NM_001429.3(EP300):c.70_71del (p.Ser24Glyfs) rs1555902247
NM_001429.3(EP300):c.7222_7223del (p.Gln2408Glufs) rs1057519375
NM_001429.3(EP300):c.769_786delTATACTCAGAATCCTGGA (p.Tyr257_Gly262del) rs876661318
NM_001429.4(EP300):c.2877_2884del (p.Thr960Glufs)
NM_001429.4(EP300):c.638del (p.Gly213Glufs)
NM_001429.4(EP300):c.7100del (p.Pro2367Argfs)
NM_001429.4:c.730_1760del

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