ClinVar Miner

List of variants reported as likely pathogenic for Rubinstein-Taybi syndrome by Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001079846.1(CREBBP):c.6161C>G (p.Ser2054Ter) rs1555471077
NM_001429.4(EP300):c.3731_3733TTG[1] (p.Val1245del) rs1555910602
NM_001429.4(EP300):c.4371_4376del (p.Ile1457_Lys1459delinsMet) rs1555911316
NM_001429.4(EP300):c.4505C>T (p.Pro1502Leu) rs1555911573
NM_001429.4(EP300):c.6196C>T (p.Gln2066Ter) rs1555912238

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