ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency by Invitae

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 92
Download table as spreadsheet
HGVS dbSNP
NC_000022.11:g.(?_41131368)_(41140277_?)del
NC_000022.11:g.(?_41151813)_(41152370_?)del
NC_000022.11:g.(?_41154975)_(41164150_?)del
NM_001429.4(EP300):c.1104C>T (p.His368=)
NM_001429.4(EP300):c.1168+7G>C rs181755354
NM_001429.4(EP300):c.1283-8T>C rs76827562
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251
NM_001429.4(EP300):c.1540A>G (p.Met514Val) rs765266179
NM_001429.4(EP300):c.1541T>C (p.Met514Thr)
NM_001429.4(EP300):c.1572G>A (p.Thr524=) rs746398873
NM_001429.4(EP300):c.1627A>G (p.Met543Val) rs142823793
NM_001429.4(EP300):c.1686A>C (p.Pro562=)
NM_001429.4(EP300):c.1782G>C (p.Thr594=) rs17002307
NM_001429.4(EP300):c.1887C>T (p.Tyr629=)
NM_001429.4(EP300):c.1989C>T (p.Gly663=) rs1291428868
NM_001429.4(EP300):c.2005A>G (p.Met669Val) rs749541256
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu) rs193026103
NM_001429.4(EP300):c.2245A>G (p.Met749Val)
NM_001429.4(EP300):c.2348C>T (p.Ala783Val) rs755619355
NM_001429.4(EP300):c.2367T>C (p.Ala789=)
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602
NM_001429.4(EP300):c.2513G>A (p.Arg838His)
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486
NM_001429.4(EP300):c.2656C>T (p.Pro886Ser)
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710
NM_001429.4(EP300):c.2983G>T (p.Glu995Ter) rs1555909666
NM_001429.4(EP300):c.3030C>G (p.Thr1010=) rs148414681
NM_001429.4(EP300):c.3030C>T (p.Thr1010=)
NM_001429.4(EP300):c.3063T>C (p.Thr1021=) rs142431552
NM_001429.4(EP300):c.3070_3074del (p.Lys1024fs) rs1555909697
NM_001429.4(EP300):c.307G>A (p.Val103Ile) rs1193355188
NM_001429.4(EP300):c.3105C>T (p.Thr1035=) rs150498069
NM_001429.4(EP300):c.3143-9T>C
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975
NM_001429.4(EP300):c.324C>T (p.Ala108=) rs138876937
NM_001429.4(EP300):c.3348G>A (p.Gln1116=) rs20554
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.3426C>T (p.Cys1142=) rs76268515
NM_001429.4(EP300):c.3591-6C>T rs368437789
NM_001429.4(EP300):c.359G>A (p.Ser120Asn) rs1303897359
NM_001429.4(EP300):c.3617A>G (p.Asn1206Ser)
NM_001429.4(EP300):c.3624C>A (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.3684_3687del (p.Lys1228fs) rs1555910482
NM_001429.4(EP300):c.3806+3A>G
NM_001429.4(EP300):c.4066C>T (p.Arg1356Ter)
NM_001429.4(EP300):c.4311A>C (p.Ala1437=) rs150941761
NM_001429.4(EP300):c.4331A>G (p.Asp1444Gly) rs1569117388
NM_001429.4(EP300):c.444G>A (p.Thr148=) rs376779611
NM_001429.4(EP300):c.4503G>A (p.Leu1501=) rs368320273
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.4529C>G (p.Pro1510Arg) rs1569118503
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter) rs1569118537
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr) rs1057521737
NM_001429.4(EP300):c.4842T>C (p.Asp1614=)
NM_001429.4(EP300):c.4994G>A (p.Arg1665His)
NM_001429.4(EP300):c.5061+10G>A rs78432056
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr) rs147676363
NM_001429.4(EP300):c.5259C>T (p.Cys1753=) rs148040990
NM_001429.4(EP300):c.5422A>C (p.Asn1808His) rs1569120861
NM_001429.4(EP300):c.5604G>A (p.Thr1868=) rs200795114
NM_001429.4(EP300):c.5808G>A (p.Ala1936=) rs144798492
NM_001429.4(EP300):c.5814G>A (p.Thr1938=) rs112948044
NM_001429.4(EP300):c.584C>A (p.Ser195Ter)
NM_001429.4(EP300):c.6043A>G (p.Met2015Val)
NM_001429.4(EP300):c.6210G>A (p.Val2070=) rs11912899
NM_001429.4(EP300):c.6315C>T (p.Gly2105=) rs528866215
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651
NM_001429.4(EP300):c.6372C>T (p.Val2124=) rs34985152
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile) rs147973806
NM_001429.4(EP300):c.6414G>T (p.Ala2138=)
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979
NM_001429.4(EP300):c.6526C>T (p.Pro2176Ser) rs779543207
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) rs1046088
NM_001429.4(EP300):c.6675G>A (p.Gln2225=)
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008
NM_001429.4(EP300):c.678C>G (p.Gly226=) rs147244947
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099
NM_001429.4(EP300):c.6969C>G (p.Pro2323=) rs111489369
NM_001429.4(EP300):c.7070A>G (p.Asn2357Ser)
NM_001429.4(EP300):c.7161T>C (p.Gly2387=)
NM_001429.4(EP300):c.7191C>T (p.Thr2397=)
NM_001429.4(EP300):c.730-18_730-9del rs61120041
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111
NM_001429.4(EP300):c.907-10T>C
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.