ClinVar Miner

List of variants in gene EP300 reported as uncertain significance for Menke-Hennekam syndrome 2

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Total variants: 10
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HGVS dbSNP gnomAD frequency
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.5061+4G>A rs2059201364
NM_001429.4(EP300):c.5192G>A (p.Arg1731His)
NM_001429.4(EP300):c.6775G>A (p.Ala2259Thr)
NM_001429.4(EP300):c.6786G>C (p.Gln2262His) rs2059217082
NM_001429.4(EP300):c.7G>A (p.Glu3Lys) rs181951278

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