ClinVar Miner

List of variants in gene EP300 reported as uncertain significance by Illumina Laboratory Services, Illumina

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Gene type:
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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.*745del rs532524940 0.00291
NM_001429.4(EP300):c.1508T>C (p.Met503Thr) rs1185038602 0.00001
GRCh37/hg19 22q13.2(chr22:41408541-41580159)x3
NM_001429.4(EP300):c.*40_*44del rs751376755
NM_001429.4(EP300):c.*591_*592dup rs60283061
NM_001429.4(EP300):c.*592del rs60283061
NM_001429.4(EP300):c.*592dup rs60283061
NM_001429.4(EP300):c.*785_*786del rs886057577
NM_001429.4(EP300):c.*921dup rs1161532977
NM_001429.4(EP300):c.*922_*930delinsC rs1555912614
NM_001429.4(EP300):c.*922_*930delinsCCC rs1555912614
NM_001429.4(EP300):c.*922_*932delinsC rs886057580
NM_001429.4(EP300):c.*922_*932delinsCCC rs886057580
NM_001429.4(EP300):c.*922_*938delinsC rs886057581
NM_001429.4(EP300):c.*922_*942delinsC rs1555912616
NM_001429.4(EP300):c.*922_*942delinsCC rs1555912616
NM_001429.4(EP300):c.*926AC[18] rs59721178
NM_001429.4(EP300):c.*926AC[20] rs59721178
NM_001429.4(EP300):c.*926AC[22] rs59721178
NM_001429.4(EP300):c.*926AC[23] rs59721178
NM_001429.4(EP300):c.1516A>G (p.Met506Val) rs886057556
NM_001429.4(EP300):c.2242-6_2242-4del rs747710183
NM_001429.4(EP300):c.3143-4del rs757931697

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