ClinVar Miner

List of variants in gene CREBBP reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (891):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_004380.2(CREBBP):c.1149G>A (p.Pro383=) rs61759495
NM_004380.2(CREBBP):c.164A>G (p.Asn55Ser) rs587783466
NM_004380.2(CREBBP):c.1732C>T (p.Pro578Ser) rs148023511
NM_004380.2(CREBBP):c.1955A>C (p.His652Pro) rs587783468
NM_004380.2(CREBBP):c.2141G>T (p.Arg714Leu) rs141098117
NM_004380.2(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.2(CREBBP):c.2314C>A (p.Pro772Thr) rs1555482779
NM_004380.2(CREBBP):c.2606T>C (p.Leu869Pro) rs587783472
NM_004380.2(CREBBP):c.2679G>A (p.Ser893=) rs587783474
NM_004380.2(CREBBP):c.2811G>A (p.Pro937=) rs146168040
NM_004380.2(CREBBP):c.3190G>A (p.Glu1064Lys) rs886041006
NM_004380.2(CREBBP):c.3500A>G (p.Tyr1167Cys) rs587783481
NM_004380.2(CREBBP):c.3989A>G (p.Gln1330Arg) rs587783487
NM_004380.2(CREBBP):c.4421_4422delGTinsTC (p.Cys1474Phe) rs1555473126
NM_004380.2(CREBBP):c.4890+6C>T
NM_004380.2(CREBBP):c.4894T>C (p.Phe1632Leu) rs587783501
NM_004380.2(CREBBP):c.5051C>A (p.Ser1684Tyr) rs1555471841
NM_004380.2(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883
NM_004380.2(CREBBP):c.5740G>A (p.Val1914Met)
NM_004380.2(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504
NM_004380.2(CREBBP):c.5837C>A (p.Pro1946Gln)
NM_004380.2(CREBBP):c.6071C>T (p.Ala2024Val) rs745551441
NM_004380.2(CREBBP):c.6444C>T (p.Gly2148=) rs148539895
NM_004380.2(CREBBP):c.6449C>T (p.Pro2150Leu) rs587783512
NM_004380.2(CREBBP):c.7058_7078delGGCCCCAGTCCCAGCCTCCAC (p.Arg2353_Pro2359del)
NM_004380.2(CREBBP):c.7162G>A (p.Ala2388Thr)
NM_004380.2(CREBBP):c.7311G>T (p.Lys2437Asn)

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