ClinVar Miner

List of variants reported as likely benign for Rubinstein-Taybi syndrome due to CREBBP mutations by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_004380.3(CREBBP):c.1089T>C (p.His363=) rs969407052
NM_004380.3(CREBBP):c.1143G>A (p.Ser381=) rs147342740
NM_004380.3(CREBBP):c.2193C>T (p.Asn731=) rs746813014
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040
NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=) rs149055008
NM_004380.3(CREBBP):c.4133+4A>G rs372126168
NM_004380.3(CREBBP):c.4394+8T>C rs750961246
NM_004380.3(CREBBP):c.4560+6C>T rs369973805
NM_004380.3(CREBBP):c.4560+7G>C rs587783498
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504
NM_004380.3(CREBBP):c.6549G>A (p.Ala2183=) rs1348561145
NM_004380.3(CREBBP):c.6600_6611GCAGCAGCAACA[1] (p.Gln2213_Gln2216del) rs750150018
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=) rs745992971
NM_004380.3(CREBBP):c.7245C>T (p.Pro2415=) rs1555470758
NM_004380.3(CREBBP):c.879G>A (p.Val293=) rs144344016

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