ClinVar Miner

List of variants studied for Rubinstein-Taybi syndrome due to CREBBP mutations by Center For Human Genetics And Laboratory Diagnostics, Dr. Klein, Dr. Rost And Colleagues

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.1094A>C (p.His365Pro)
NM_004380.3(CREBBP):c.1562_1563del (p.Leu521fs) rs1567309482
NM_004380.3(CREBBP):c.1930G>C (p.Ala644Pro) rs2141237064
NM_004380.3(CREBBP):c.2031del (p.Ile678fs) rs1555483716
NM_004380.3(CREBBP):c.3249A>T (p.Lys1083Asn) rs2141181124
NM_004380.3(CREBBP):c.4090A>G (p.Ser1364Gly)
NM_004380.3(CREBBP):c.4666C>G (p.Leu1556Val)
NM_004380.3(CREBBP):c.5186G>C (p.Cys1729Ser) rs2051863859

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