ClinVar Miner

List of variants reported as pathogenic for Rubinstein-Taybi syndrome by Fundacion Rioja Salud,Center for Biomedical Research (CIBIR)

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_001429.4(EP300):c.3163C>T (p.Arg1055Ter) rs886041830
NM_001429.4(EP300):c.3728+5G>C rs1114167305
NM_001429.4(EP300):c.4511T>G (p.Phe1504Cys) rs1114167306
NM_001429.4(EP300):c.4954_4957dup (p.Cys1653fs) rs1555912040
NM_001429.4(EP300):c.6627_6638del (p.Asn2209_Gln2213delinsLys) rs587778256
NM_001429.4(EP300):c.68_69TC[1] (p.Ser24fs) rs1555902247
NM_001429.4(EP300):c.7220_7221CA[1] (p.Gln2408fs) rs1057519375

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