ClinVar Miner

List of variants reported as likely benign for Rubinstein-Taybi syndrome by Invitae

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_001079846.1(CREBBP):c.1089T>C (p.His363=) rs969407052
NM_001079846.1(CREBBP):c.2079C>T (p.Asn693=) rs746813014
NM_001079846.1(CREBBP):c.2564C>T (p.Ser855Leu) rs142047649
NM_001079846.1(CREBBP):c.3871C>T (p.Leu1291=) rs149055008
NM_001079846.1(CREBBP):c.7131C>T (p.Pro2377=) rs1555470758
NM_001079846.1(CREBBP):c.879G>A (p.Val293=) rs144344016
NM_001429.4(EP300):c.1575G>A (p.Pro525=) rs772455986

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