ClinVar Miner

List of variants in gene EP300, LOC126863158 studied for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

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Total variants: 59
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551 0.22427
NM_001429.4(EP300):c.2998-12G>A rs115849119 0.00836
NM_001429.4(EP300):c.2998-14dup rs560058125 0.00083
NM_001429.4(EP300):c.3105C>T (p.Thr1035=) rs150498069 0.00048
NM_001429.4(EP300):c.3063T>C (p.Thr1021=) rs142431552 0.00043
NM_001429.4(EP300):c.2916T>C (p.Pro972=) rs142769483 0.00014
NM_001429.4(EP300):c.2925A>G (p.Glu975=) rs75752076 0.00010
NM_001429.4(EP300):c.2975C>A (p.Thr992Asn) rs760974878 0.00001
NM_001429.4(EP300):c.2997+12G>A rs372770495 0.00001
NC_000022.10:g.(41537227_41542742)_(41560135_41562602)dup
NM_001429.4(EP300):c.2818-18C>T
NM_001429.4(EP300):c.2818-19C>A
NM_001429.4(EP300):c.2818-20T>G
NM_001429.4(EP300):c.2818-5C>T
NM_001429.4(EP300):c.2818-8C>G
NM_001429.4(EP300):c.2829A>G (p.Pro943=)
NM_001429.4(EP300):c.2838C>G (p.Ser946Arg) rs2059047440
NM_001429.4(EP300):c.2864C>A (p.Pro955Gln)
NM_001429.4(EP300):c.2868T>C (p.Ser956=)
NM_001429.4(EP300):c.2870C>G (p.Thr957Ser)
NM_001429.4(EP300):c.2872A>G (p.Ser958Gly)
NM_001429.4(EP300):c.2876G>T (p.Ser959Ile) rs1308182502
NM_001429.4(EP300):c.2877_2884del (p.Thr960fs) rs1569108381
NM_001429.4(EP300):c.2889T>C (p.Asn963=)
NM_001429.4(EP300):c.2891C>A (p.Ser964Tyr)
NM_001429.4(EP300):c.2894A>T (p.Gln965Leu)
NM_001429.4(EP300):c.2898C>T (p.Ala966=)
NM_001429.4(EP300):c.2913G>C (p.Gln971His)
NM_001429.4(EP300):c.2915C>T (p.Pro972Leu)
NM_001429.4(EP300):c.2917T>G (p.Ser973Ala)
NM_001429.4(EP300):c.2940C>T (p.Ala980=)
NM_001429.4(EP300):c.2946G>A (p.Met982Ile)
NM_001429.4(EP300):c.2955T>A (p.Asp985Glu)
NM_001429.4(EP300):c.2965C>A (p.Pro989Thr)
NM_001429.4(EP300):c.2974A>G (p.Thr992Ala)
NM_001429.4(EP300):c.2975C>G (p.Thr992Ser)
NM_001429.4(EP300):c.2982G>A (p.Pro994=)
NM_001429.4(EP300):c.2983G>T (p.Glu995Ter) rs1555909666
NM_001429.4(EP300):c.2997+10G>A
NM_001429.4(EP300):c.2997+14A>G
NM_001429.4(EP300):c.2998-13C>T
NM_001429.4(EP300):c.2998-13del
NM_001429.4(EP300):c.2998-3_2998-2del rs2145740556
NM_001429.4(EP300):c.2998-3del rs528974321
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.3031G>C (p.Glu1011Gln) rs775368605
NM_001429.4(EP300):c.3045A>G (p.Arg1015=)
NM_001429.4(EP300):c.3067del (p.Glu1022_Ile1023insTer) rs2059050708
NM_001429.4(EP300):c.3070_3074del (p.Lys1024fs) rs1555909697
NM_001429.4(EP300):c.3084C>A (p.Asp1028Glu)
NM_001429.4(EP300):c.3116C>T (p.Pro1039Leu)
NM_001429.4(EP300):c.3118G>A (p.Ala1040Thr) rs2145741097
NM_001429.4(EP300):c.3123A>G (p.Pro1041=)
NM_001429.4(EP300):c.3135_3138del (p.Lys1046fs) rs2059051273
NM_001429.4(EP300):c.3138A>G (p.Lys1046=)
NM_001429.4(EP300):c.3142+17A>T
NM_001429.4(EP300):c.3142+20C>T
NM_001429.4(EP300):c.3142+8T>C

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