ClinVar Miner

List of variants in gene CREBBP reported as pathogenic by Invitae

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Gene type:
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Total variants: 26
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HGVS dbSNP
NC_000016.9:g.(?_3799608)_(3821007_?)dup
NC_000016.9:g.(?_3817701)_(3817930_?)dup
NC_000016.9:g.(?_3830713)_(3831327_?)del
NM_001079846.1(CREBBP):c.1333C>T (p.Arg445Ter) rs1555484797
NM_001079846.1(CREBBP):c.1741dup (p.Ala581fs)
NM_001079846.1(CREBBP):c.1803dup (p.Met602fs) rs1567306142
NM_001079846.1(CREBBP):c.1827+1G>A rs1555483834
NM_001079846.1(CREBBP):c.1891_1892delinsT (p.Lys630_Arg631insTer)
NM_001079846.1(CREBBP):c.2208del (p.Asn736fs)
NM_001079846.1(CREBBP):c.2641C>T (p.Gln881Ter)
NM_001079846.1(CREBBP):c.314_315del (p.Gly105fs)
NM_001079846.1(CREBBP):c.3722+1G>C
NM_001079846.1(CREBBP):c.3863del (p.Ala1288fs) rs1567276741
NM_001079846.1(CREBBP):c.4116dup (p.Gly1373fs) rs1555473668
NM_001079846.1(CREBBP):c.4280G>A (p.Gly1427Glu) rs1555473491
NM_001079846.1(CREBBP):c.4445A>G (p.Lys1482Arg)
NM_001079846.1(CREBBP):c.4528_4529GT[1] (p.Leu1511fs) rs1555472938
NM_001079846.1(CREBBP):c.4549G>T (p.Glu1517Ter) rs1555472931
NM_001079846.1(CREBBP):c.4558C>T (p.Gln1520Ter)
NM_001079846.1(CREBBP):c.472del (p.Gln158fs) rs1555496581
NM_001079846.1(CREBBP):c.4900A>T (p.Arg1634Ter) rs1555471874
NM_001079846.1(CREBBP):c.508C>T (p.Gln170Ter) rs1555496560
NM_001079846.1(CREBBP):c.5525_5526AG[1] (p.Leu1844fs) rs1567263114
NM_001079846.1(CREBBP):c.5580_5589del (p.Ser1860fs) rs1555471323
NM_001079846.1(CREBBP):c.5742dup (p.Pro1915fs)
NM_004380.2(CREBBP):c.-204_85del rs1567386034

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