RS139310551 EP300

Health Risk Chr 22:41176399 snv stop gained
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What This Variant Does
"CLNSIG=5
Associated Conditions
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300-related disorder
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
EP300-related disorder
Population Frequencies
gnomAD ALL
100%
Other Variants in EP300
rs137853038 rs28937578 rs137853039 rs1569108381 rs1569122847 rs1569090642 rs201054979 rs587778255 rs149456776 rs886037664
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