ClinVar Miner

List of variants in gene EP300 reported by New York Genome Center

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Gene type:
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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.7082A>G (p.Gln2361Arg) rs1263635747 0.00003
NM_001429.4(EP300):c.3884C>G (p.Ser1295Cys) rs772897576 0.00001
NM_001429.4(EP300):c.301G>A (p.Gly101Ser) rs762557708
NM_001429.4(EP300):c.3893T>G (p.Leu1298Arg) rs2145762737
NM_001429.4(EP300):c.4432C>T (p.Arg1478Cys) rs1445337631
NM_001429.4(EP300):c.7225A>C (p.Ser2409Arg) rs748325077

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