ClinVar Miner

List of variants in gene EP300 studied for Inborn genetic diseases

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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.4026G>A (p.Arg1342=) rs146119145 0.00016
NM_001429.4(EP300):c.448T>C (p.Ser150Pro) rs138241570 0.00012
NM_001429.4(EP300):c.454G>A (p.Gly152Ser) rs142758675 0.00011
NM_001429.4(EP300):c.3377A>G (p.Asn1126Ser) rs777847755 0.00006
NM_001429.4(EP300):c.4214G>A (p.Arg1405His) rs138855106 0.00006
NM_001429.4(EP300):c.6649G>A (p.Val2217Ile) rs368554118 0.00006
NM_001429.4(EP300):c.781C>T (p.Pro261Ser) rs753462821 0.00004
NM_001429.4(EP300):c.2744G>A (p.Arg915His) rs748820220 0.00003
NM_001429.4(EP300):c.6091C>T (p.Pro2031Ser) rs199650847 0.00003
NM_001429.4(EP300):c.1874A>G (p.Asn625Ser) rs775426461 0.00001
NM_001429.4(EP300):c.214C>A (p.Gln72Lys) rs539635560 0.00001
NM_001429.4(EP300):c.2213A>G (p.Gln738Arg) rs766858607 0.00001
NM_001429.4(EP300):c.5869C>T (p.Pro1957Ser) rs1301322622 0.00001
NM_001429.4(EP300):c.6352A>G (p.Met2118Val) rs755381839 0.00001
NM_001429.4(EP300):c.1066C>T (p.Gln356Ter) rs1555907278
NM_001429.4(EP300):c.1403A>G (p.Tyr468Cys)
NM_001429.4(EP300):c.1447C>T (p.Gln483Ter)
NM_001429.4(EP300):c.1508dup (p.Met503fs) rs1555907749
NM_001429.4(EP300):c.1670C>T (p.Pro557Leu)
NM_001429.4(EP300):c.1673C>T (p.Thr558Ile)
NM_001429.4(EP300):c.1879_1889delinsTTGAAGTGGTAGTATTC (p.Ala627_Tyr630delinsLeuLysTrpTer)
NM_001429.4(EP300):c.1880C>T (p.Ala627Val)
NM_001429.4(EP300):c.1972C>A (p.Leu658Ile)
NM_001429.4(EP300):c.2093T>C (p.Val698Ala)
NM_001429.4(EP300):c.2335A>G (p.Asn779Asp)
NM_001429.4(EP300):c.2336A>G (p.Asn779Ser)
NM_001429.4(EP300):c.2512C>G (p.Arg838Gly)
NM_001429.4(EP300):c.2540C>G (p.Pro847Arg)
NM_001429.4(EP300):c.2563C>T (p.Pro855Ser)
NM_001429.4(EP300):c.2617C>G (p.Pro873Ala)
NM_001429.4(EP300):c.2713C>A (p.Pro905Thr)
NM_001429.4(EP300):c.272C>G (p.Pro91Arg)
NM_001429.4(EP300):c.272del (p.Pro91fs) rs1555905780
NM_001429.4(EP300):c.2753A>G (p.Gln918Arg)
NM_001429.4(EP300):c.284T>C (p.Met95Thr)
NM_001429.4(EP300):c.3502-2A>G rs2059089321
NM_001429.4(EP300):c.365T>A (p.Val122Asp)
NM_001429.4(EP300):c.3946C>G (p.Pro1316Ala)
NM_001429.4(EP300):c.4026-2A>G rs1555911098
NM_001429.4(EP300):c.4111C>G (p.Leu1371Val)
NM_001429.4(EP300):c.4363C>T (p.Gln1455Ter) rs1555911313
NM_001429.4(EP300):c.443C>T (p.Thr148Met)
NM_001429.4(EP300):c.4575dup (p.Glu1526fs) rs2059177123
NM_001429.4(EP300):c.4579_4589del (p.Arg1527fs) rs1555911580
NM_001429.4(EP300):c.4691G>A (p.Ser1564Asn)
NM_001429.4(EP300):c.4783T>G (p.Phe1595Val) rs1057517732
NM_001429.4(EP300):c.487A>G (p.Met163Val)
NM_001429.4(EP300):c.494T>C (p.Met165Thr)
NM_001429.4(EP300):c.5170_5194del (p.Thr1724fs) rs1555912112
NM_001429.4(EP300):c.5307G>C (p.Lys1769Asn)
NM_001429.4(EP300):c.5520_5522del (p.Val1841del)
NM_001429.4(EP300):c.5556_5564del (p.Ala1853_Pro1855del) rs1555912151
NM_001429.4(EP300):c.5603C>T (p.Thr1868Met)
NM_001429.4(EP300):c.5618C>T (p.Ser1873Phe)
NM_001429.4(EP300):c.5633C>T (p.Thr1878Ile)
NM_001429.4(EP300):c.5719C>T (p.Pro1907Ser)
NM_001429.4(EP300):c.580_587del (p.Gly194fs)
NM_001429.4(EP300):c.605G>T (p.Arg202Leu)
NM_001429.4(EP300):c.6397A>T (p.Met2133Leu)
NM_001429.4(EP300):c.6460C>T (p.Leu2154Phe)
NM_001429.4(EP300):c.6526C>A (p.Pro2176Thr)
NM_001429.4(EP300):c.6567G>A (p.Met2189Ile)
NM_001429.4(EP300):c.6608dup (p.Gly2204fs) rs2059215587
NM_001429.4(EP300):c.6613A>G (p.Met2205Val)
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.6709G>A (p.Gly2237Arg)
NM_001429.4(EP300):c.6712A>G (p.Asn2238Asp)
NM_001429.4(EP300):c.6716T>C (p.Met2239Thr)
NM_001429.4(EP300):c.6773A>T (p.Gln2258Leu) rs2145522210
NM_001429.4(EP300):c.6792_6793insT (p.Leu2265fs)
NM_001429.4(EP300):c.6865G>A (p.Ala2289Thr)
NM_001429.4(EP300):c.6986dup (p.Arg2330fs) rs2059219404
NM_001429.4(EP300):c.7097del (p.Ser2366fs) rs2059220495
NM_001429.4(EP300):c.7112C>T (p.Ser2371Leu)
NM_001429.4(EP300):c.7136A>G (p.Asn2379Ser) rs886057571
NM_001429.4(EP300):c.772A>G (p.Thr258Ala)
NM_001429.4(EP300):c.839T>C (p.Leu280Pro)
NM_001429.4(EP300):c.871A>G (p.Lys291Glu) rs1555907094
NM_001429.4(EP300):c.895A>G (p.Met299Val)

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