ClinVar Miner

List of variants reported as benign for Rubinstein-Taybi syndrome by Invitae

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 88
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HGVS dbSNP
NM_001429.4(EP300):c.1104C>T (p.His368=) rs78045947
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.1686A>C (p.Pro562=) rs144993798
NM_001429.4(EP300):c.1782G>C (p.Thr594=) rs17002307
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.2499G>A (p.Ser833=) rs35560602
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710
NM_001429.4(EP300):c.3030C>G (p.Thr1010=) rs148414681
NM_001429.4(EP300):c.3030C>T (p.Thr1010=) rs148414681
NM_001429.4(EP300):c.3063T>C (p.Thr1021=) rs142431552
NM_001429.4(EP300):c.3105C>T (p.Thr1035=) rs150498069
NM_001429.4(EP300):c.3143-9T>C rs199773872
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.3806+3A>G rs1601629363
NM_001429.4(EP300):c.4311A>C (p.Ala1437=) rs150941761
NM_001429.4(EP300):c.4503G>A (p.Leu1501=) rs368320273
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.5814G>A (p.Thr1938=) rs112948044
NM_001429.4(EP300):c.6210G>A (p.Val2070=) rs11912899
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.6481A>G (p.Met2161Val) rs188035979
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=) rs147880144
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.730-18_730-9del rs61120041
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381
NM_004380.3(CREBBP):c.1953T>C (p.Tyr651=) rs130003
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2784G>A (p.Pro928=) rs3025694
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=) rs141651423
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val) rs141982003
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile) rs61731383
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu) rs142008620
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705
NM_004380.3(CREBBP):c.3370-5_3370-4del rs75459669
NM_004380.3(CREBBP):c.3698+7G>A rs374345970
NM_004380.3(CREBBP):c.3831C>T (p.Pro1277=) rs141869477
NM_004380.3(CREBBP):c.3900C>A (p.Ile1300=) rs129974
NM_004380.3(CREBBP):c.4133+9G>A rs376602227
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) rs149560660
NM_004380.3(CREBBP):c.459G>A (p.Pro153=) rs56388626
NM_004380.3(CREBBP):c.4740C>T (p.Gly1580=)
NM_004380.3(CREBBP):c.5052C>T (p.Ser1684=) rs2072381
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=) rs61754523
NM_004380.3(CREBBP):c.5670C>T (p.Pro1890=) rs115594471
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=) rs181646656
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=) rs374150949
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220
NM_004380.3(CREBBP):c.6621A>G (p.Gln2207=) rs55960450
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311
NM_004380.3(CREBBP):c.6711C>T (p.Pro2237=) rs3751845
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=) rs144609433
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922
NM_004380.3(CREBBP):c.939T>C (p.Asp313=) rs3025702

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