ClinVar Miner

List of variants reported as likely benign for Rubinstein-Taybi syndrome by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
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HGVS dbSNP
NM_001429.4(EP300):c.*1083_*1085del rs561433394
NM_001429.4(EP300):c.*137C>T rs113567138
NM_001429.4(EP300):c.*138G>A rs75494658
NM_001429.4(EP300):c.*298A>G rs552755933
NM_001429.4(EP300):c.*340dup rs561569141
NM_001429.4(EP300):c.*352C>T rs577686550
NM_001429.4(EP300):c.*52C>G rs542406106
NM_001429.4(EP300):c.*568A>G rs533563820
NM_001429.4(EP300):c.*815A>C rs572918594
NM_001429.4(EP300):c.-133A>G rs116913445
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.1528+15T>C rs200147263
NM_001429.4(EP300):c.1782G>C (p.Thr594=) rs17002307
NM_001429.4(EP300):c.1878+9C>G rs186198699
NM_001429.4(EP300):c.1990A>G (p.Met664Val) rs529145180
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.2609C>T (p.Pro870Leu) rs540935486
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710
NM_001429.4(EP300):c.2787A>G (p.Ala929=) rs143690368
NM_001429.4(EP300):c.2998-12G>A rs115849119
NM_001429.4(EP300):c.3105C>T (p.Thr1035=) rs150498069
NM_001429.4(EP300):c.3162A>G (p.Leu1054=) rs139758629
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.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.3426C>T (p.Cys1142=) rs76268515
NM_001429.4(EP300):c.3624C>A (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.4026-7T>C rs187388966
NM_001429.4(EP300):c.4311A>C (p.Ala1437=) rs150941761
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.4798C>G (p.Leu1600Val) rs140154690
NM_001429.4(EP300):c.4824C>G (p.Ser1608=) rs199994113
NM_001429.4(EP300):c.5061+10G>A rs78432056
NM_001429.4(EP300):c.5061+9C>T rs73176628
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.586A>G (p.Ile196Val) rs148693910
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) rs144626200
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.6417C>T (p.Gly2139=) rs111315183
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.678C>G (p.Gly226=) rs147244947
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.6912C>T (p.Ser2304=) rs113329190
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.6984C>A (p.Ser2328=) rs200478275
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111
NM_001429.4(EP300):c.94+13A>G rs201124490
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553

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