ClinVar Miner

List of variants in gene EP300 reported as not provided by ITMI

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Total variants: 34
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HGVS dbSNP
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala) rs377368037
NM_001429.4(EP300):c.1403A>T (p.Tyr468Phe) rs587778262
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251
NM_001429.4(EP300):c.1654T>C (p.Ser552Pro) rs587778263
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764
NM_001429.4(EP300):c.2173A>G (p.Ile725Val) rs73885743
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752
NM_001429.4(EP300):c.2627A>T (p.Gln876Leu) rs587778254
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710
NM_001429.4(EP300):c.2774dup (p.Thr926fs) rs587778253
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975
NM_001429.4(EP300):c.3615C>G (p.Phe1205Leu) rs587778255
NM_001429.4(EP300):c.376A>G (p.Met126Val) rs200635644
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr) rs147676363
NM_001429.4(EP300):c.5552C>T (p.Thr1851Ile) rs587778257
NM_001429.4(EP300):c.5669C>G (p.Thr1890Ser) rs146165770
NM_001429.4(EP300):c.6289C>G (p.Pro2097Ala) rs200189212
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile) rs147973806
NM_001429.4(EP300):c.6413C>T (p.Ala2138Val) rs587778258
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979
NM_001429.4(EP300):c.6504G>A (p.Met2168Ile) rs566357328
NM_001429.4(EP300):c.6586G>A (p.Gly2196Arg) rs587778260
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) rs1046088
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.6907C>G (p.Leu2303Val) rs144787962
NM_001429.4(EP300):c.6950G>A (p.Arg2317Gln) rs149456776
NM_001429.4(EP300):c.7018G>A (p.Val2340Ile) rs558456063
NM_001429.4(EP300):c.7139C>T (p.Pro2380Leu) rs587778259
NM_001429.4(EP300):c.752A>G (p.Asn251Ser) rs142009367
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111
NM_001429.4(EP300):c.923C>T (p.Pro308Leu) rs587778261

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