ClinVar Miner

List of variants in gene EP300 studied for Rubinstein-Taybi syndrome 2

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Total variants: 43
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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.1529-8T>C rs587783621
NM_001429.3(EP300):c.1672A>G (p.Thr558Ala) rs1057519397
NM_001429.3(EP300):c.1942C>T (p.Arg648Ter) rs137853039
NM_001429.3(EP300):c.2019T>C (p.Pro673=) rs2230110
NM_001429.3(EP300):c.2164dupC (p.Gln722Profs) rs879253873
NM_001429.3(EP300):c.2998-12G>A rs115849119
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.3573T>A (p.Tyr1191Ter) rs565779970
NM_001429.3(EP300):c.3665C>A (p.Pro1222His) rs7285319
NM_001429.3(EP300):c.3684_3687delAGAA (p.Lys1228Asnfs) rs1555910482
NM_001429.3(EP300):c.3728+5G>C rs1114167305
NM_001429.3(EP300):c.3734_3736delTTG (p.Val1245del) rs1555910602
NM_001429.3(EP300):c.3750C>G (p.Cys1250Trp)
NM_001429.3(EP300):c.3857A>G rs1555910821
NM_001429.3(EP300):c.4363C>T (p.Gln1455Ter) rs1555911313
NM_001429.3(EP300):c.4371_4376delACCCAA (p.Ile1457_Lys1459delinsMet) rs1555911316
NM_001429.3(EP300):c.4452+5G>T rs1555911334
NM_001429.3(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.3(EP300):c.4511T>G (p.Phe1504Cys) rs1114167306
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.5061+10G>A rs78432056
NM_001429.3(EP300):c.5723dup (p.Thr1909Asnfs) rs1555912182
NM_001429.3(EP300):c.586A>G (p.Ile196Val) rs148693910
NM_001429.3(EP300):c.6001C>T (p.Pro2001Ser) rs1210404526
NM_001429.3(EP300):c.6196C>T (p.Gln2066Ter) rs1555912238
NM_001429.3(EP300):c.6574_6585delCAGCAGCAACAG (p.Gln2192_Gln2195del) rs875989807
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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