ClinVar Miner

List of variants in gene EP300 studied for Menke-Hennekam syndrome 2

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.2053+8G>T rs6002267 0.96326
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552 0.59984
NM_001429.4(EP300):c.4453-23T>C rs2076577 0.51146
NM_001429.4(EP300):c.4452+20C>T rs6002271 0.24366
NM_001429.4(EP300):c.1760+20C>T rs368767822 0.00004
NM_001429.4(EP300):c.1985C>A (p.Ala662Glu) rs1339311567
NM_001429.4(EP300):c.2053+4A>T rs1057518889
NM_001429.4(EP300):c.4021G>A (p.Ala1341Thr)
NM_001429.4(EP300):c.4372C>T (p.Pro1458Ser) rs1487932572
NM_001429.4(EP300):c.4898T>G (p.Leu1633Arg)
NM_001429.4(EP300):c.5061+4G>A rs2059201364
NM_001429.4(EP300):c.5192G>A (p.Arg1731His)
NM_001429.4(EP300):c.5471A>C (p.Gln1824Pro) rs1569120903
NM_001429.4(EP300):c.5489GGA[1] (p.Arg1831del) rs1569120910
NM_001429.4(EP300):c.5745G>C (p.Gln1915His)
NM_001429.4(EP300):c.6775G>A (p.Ala2259Thr)
NM_001429.4(EP300):c.6786G>C (p.Gln2262His) rs2059217082
NM_001429.4(EP300):c.7111T>A (p.Ser2371Thr) rs2059220693
NM_001429.4(EP300):c.7G>A (p.Glu3Lys) rs181951278

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