ClinVar Miner

List of variants in gene CREBBP reported as uncertain significance for Rubinstein-Taybi syndrome 1

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Total variants: 35
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HGVS dbSNP
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495
NM_004380.3(CREBBP):c.1213C>G (p.Gln405Glu)
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser) rs587783466
NM_004380.3(CREBBP):c.1732C>T (p.Pro578Ser) rs148023511
NM_004380.3(CREBBP):c.1955A>C (p.His652Pro) rs587783468
NM_004380.3(CREBBP):c.2141G>T (p.Arg714Leu) rs141098117
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.3(CREBBP):c.2314C>A (p.Pro772Thr) rs1555482779
NM_004380.3(CREBBP):c.2417T>G (p.Met806Arg) rs1596895058
NM_004380.3(CREBBP):c.2606T>C (p.Leu869Pro) rs587783472
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=) rs587783474
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040
NM_004380.3(CREBBP):c.283G>A (p.Val95Met) rs756802946
NM_004380.3(CREBBP):c.3190G>A (p.Glu1064Lys) rs886041006
NM_004380.3(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.3(CREBBP):c.3698+5G>T rs1596852349
NM_004380.3(CREBBP):c.3989A>G (p.Gln1330Arg) rs587783487
NM_004380.3(CREBBP):c.4279A>G (p.Arg1427Gly) rs794727401
NM_004380.3(CREBBP):c.437C>T (p.Ala146Val) rs1295662710
NM_004380.3(CREBBP):c.4394+3_4394+7del rs1596810185
NM_004380.3(CREBBP):c.4421_4422delinsTC (p.Cys1474Phe) rs1555473126
NM_004380.3(CREBBP):c.4559A>T (p.Lys1520Met) rs1596805575
NM_004380.3(CREBBP):c.4890+6C>T rs1567265838
NM_004380.3(CREBBP):c.4894T>C (p.Phe1632Leu) rs587783501
NM_004380.3(CREBBP):c.5051C>A (p.Ser1684Tyr) rs1555471841
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met) rs760771706
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln) rs765600316
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val) rs745551441
NM_004380.3(CREBBP):c.6444C>T (p.Gly2148=) rs148539895
NM_004380.3(CREBBP):c.6449C>T (p.Pro2150Leu) rs587783512
NM_004380.3(CREBBP):c.7162G>A (p.Ala2388Thr) rs756011865
NM_004380.3(CREBBP):c.7311G>T (p.Lys2437Asn) rs895608889
NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala) rs1597053070

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