ClinVar Miner

List of variants in gene EP300 reported as likely benign for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_001429.4(EP300):c.1572G>A (p.Thr524=) rs746398873
NM_001429.4(EP300):c.1672A>G (p.Thr558Ala) rs1057519397
NM_001429.4(EP300):c.1887C>T (p.Tyr629=) rs144594889
NM_001429.4(EP300):c.2245A>G (p.Met749Val) rs370478867
NM_001429.4(EP300):c.2348C>T (p.Ala783Val) rs755619355
NM_001429.4(EP300):c.2367T>C (p.Ala789=) rs759989339
NM_001429.4(EP300):c.2513G>A (p.Arg838His) rs774840930
NM_001429.4(EP300):c.2609C>T (p.Pro870Leu) rs540935486
NM_001429.4(EP300):c.2656C>T (p.Pro886Ser) rs148308496
NM_001429.4(EP300):c.316A>G (p.Ser106Gly) rs150245975
NM_001429.4(EP300):c.3591-6C>T rs368437789
NM_001429.4(EP300):c.3624C>A (p.Ile1208=) rs143660871
NM_001429.4(EP300):c.444G>A (p.Thr148=) rs376779611
NM_001429.4(EP300):c.4842T>C (p.Asp1614=) rs755816596
NM_001429.4(EP300):c.5604G>A (p.Thr1868=) rs200795114
NM_001429.4(EP300):c.5808G>A (p.Ala1936=) rs144798492
NM_001429.4(EP300):c.6315C>T (p.Gly2105=) rs528866215
NM_001429.4(EP300):c.6390G>A (p.Met2130Ile) rs147973806
NM_001429.4(EP300):c.6414G>T (p.Ala2138=) rs374679651
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.7161T>C (p.Gly2387=) rs143148170
NM_001429.4(EP300):c.7191C>T (p.Thr2397=) rs376984096
NM_001429.4(EP300):c.907-10T>C rs772628747

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