ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome due to EP300 haploinsufficiency by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110 0.01054
NM_001429.4(EP300):c.2998-12G>A rs115849119 0.00836
NM_001429.4(EP300):c.5061+10G>A rs78432056 0.00135
NM_001429.4(EP300):c.586A>G (p.Ile196Val) rs148693910 0.00009
NM_001429.4(EP300):c.1529-8T>C rs587783621
NM_001429.4(EP300):c.3665C>A (p.Pro1222His) rs7285319
NM_001429.4(EP300):c.4836dup (p.Val1613fs) rs797045559
NM_001429.4(EP300):c.6915_6918del (p.Asn2305fs) rs797045560

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