ClinVar Miner

List of variants in gene CREBBP reported as uncertain significance for Inborn genetic diseases

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Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.4133+4A>G rs372126168 0.00124
NM_004380.3(CREBBP):c.3089C>T (p.Ser1030Phe) rs757051244 0.00013
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val) rs369459749 0.00009
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val) rs745551441 0.00003
NM_004380.3(CREBBP):c.105C>G (p.Asp35Glu) rs372495787 0.00001
NM_004380.3(CREBBP):c.1618C>A (p.Gln540Lys) rs398124138 0.00001
NM_004380.3(CREBBP):c.5836C>G (p.Pro1946Ala) rs1321085895 0.00001
NM_004380.3(CREBBP):c.6126G>T (p.Met2042Ile) rs1052723403 0.00001
NM_004380.3(CREBBP):c.6454C>G (p.Pro2152Ala) rs773348705 0.00001
NM_004380.3(CREBBP):c.1022C>T (p.Ala341Val)
NM_004380.3(CREBBP):c.1260G>C (p.Lys420Asn)
NM_004380.3(CREBBP):c.1265G>C (p.Cys422Ser)
NM_004380.3(CREBBP):c.1331-6T>G
NM_004380.3(CREBBP):c.1465G>A (p.Gly489Arg)
NM_004380.3(CREBBP):c.1504C>T (p.Pro502Ser)
NM_004380.3(CREBBP):c.1672A>G (p.Thr558Ala)
NM_004380.3(CREBBP):c.1792C>G (p.Gln598Glu)
NM_004380.3(CREBBP):c.2056C>T (p.Pro686Ser)
NM_004380.3(CREBBP):c.2060C>T (p.Ala687Val)
NM_004380.3(CREBBP):c.2063C>T (p.Pro688Leu) rs375125948
NM_004380.3(CREBBP):c.2110C>T (p.Pro704Ser)
NM_004380.3(CREBBP):c.2113+3A>G
NM_004380.3(CREBBP):c.2119C>G (p.Pro707Ala)
NM_004380.3(CREBBP):c.2155C>G (p.Gln719Glu)
NM_004380.3(CREBBP):c.2266A>G (p.Met756Val)
NM_004380.3(CREBBP):c.2284-4G>A
NM_004380.3(CREBBP):c.2296C>T (p.Pro766Ser)
NM_004380.3(CREBBP):c.2414C>T (p.Ala805Val)
NM_004380.3(CREBBP):c.2417T>A (p.Met806Lys) rs1596895058
NM_004380.3(CREBBP):c.2495C>A (p.Pro832His)
NM_004380.3(CREBBP):c.2501A>G (p.Asn834Ser)
NM_004380.3(CREBBP):c.2675T>C (p.Val892Ala)
NM_004380.3(CREBBP):c.2809C>A (p.Pro937Thr)
NM_004380.3(CREBBP):c.2810C>T (p.Pro937Leu)
NM_004380.3(CREBBP):c.2944G>A (p.Glu982Lys)
NM_004380.3(CREBBP):c.3091C>G (p.Gln1031Glu) rs2052895796
NM_004380.3(CREBBP):c.3104A>C (p.Glu1035Ala)
NM_004380.3(CREBBP):c.3149A>G (p.Glu1050Gly)
NM_004380.3(CREBBP):c.3200G>A (p.Ser1067Asn)
NM_004380.3(CREBBP):c.320C>G (p.Pro107Arg) rs766844540
NM_004380.3(CREBBP):c.3250+4G>A
NM_004380.3(CREBBP):c.3488A>T (p.Asn1163Ile) rs1555478297
NM_004380.3(CREBBP):c.3506G>A (p.Arg1169His)
NM_004380.3(CREBBP):c.3629C>T (p.Thr1210Ile)
NM_004380.3(CREBBP):c.389C>A (p.Ala130Asp)
NM_004380.3(CREBBP):c.3920T>C (p.Val1307Ala) rs2151354200
NM_004380.3(CREBBP):c.395G>C (p.Ser132Thr)
NM_004380.3(CREBBP):c.4061C>T (p.Ala1354Val)
NM_004380.3(CREBBP):c.4066G>A (p.Glu1356Lys)
NM_004380.3(CREBBP):c.4150G>A (p.Glu1384Lys) rs1567272395
NM_004380.3(CREBBP):c.4345G>A (p.Val1449Ile)
NM_004380.3(CREBBP):c.4484A>C (p.Lys1495Thr)
NM_004380.3(CREBBP):c.4485G>C (p.Lys1495Asn)
NM_004380.3(CREBBP):c.4490A>C (p.Lys1497Thr)
NM_004380.3(CREBBP):c.4529C>T (p.Ala1510Val) rs780939128
NM_004380.3(CREBBP):c.4799T>G (p.Ile1600Ser)
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del) rs1555471931
NM_004380.3(CREBBP):c.4927A>G (p.Ile1643Val)
NM_004380.3(CREBBP):c.5234G>C (p.Trp1745Ser)
NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser) rs1064794963
NM_004380.3(CREBBP):c.5488G>A (p.Ala1830Thr) rs2151310426
NM_004380.3(CREBBP):c.5489C>G (p.Ala1830Gly)
NM_004380.3(CREBBP):c.5551C>T (p.Arg1851Cys) rs763253161
NM_004380.3(CREBBP):c.5753C>T (p.Pro1918Leu)
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln) rs765600316
NM_004380.3(CREBBP):c.5875G>T (p.Ala1959Ser)
NM_004380.3(CREBBP):c.5879G>A (p.Arg1960Gln)
NM_004380.3(CREBBP):c.5943G>T (p.Met1981Ile)
NM_004380.3(CREBBP):c.5962A>T (p.Met1988Leu)
NM_004380.3(CREBBP):c.6121T>C (p.Ser2041Pro)
NM_004380.3(CREBBP):c.6137C>T (p.Ala2046Val)
NM_004380.3(CREBBP):c.6161C>T (p.Pro2054Leu)
NM_004380.3(CREBBP):c.6265A>T (p.Ile2089Phe) rs2051824872
NM_004380.3(CREBBP):c.6362T>A (p.Leu2121His)
NM_004380.3(CREBBP):c.6452G>T (p.Arg2151Leu)
NM_004380.3(CREBBP):c.649G>A (p.Gly217Ser)
NM_004380.3(CREBBP):c.6661A>G (p.Met2221Val)
NM_004380.3(CREBBP):c.6677C>T (p.Ala2226Val)
NM_004380.3(CREBBP):c.6763C>T (p.Pro2255Ser)
NM_004380.3(CREBBP):c.6796G>A (p.Ala2266Thr)
NM_004380.3(CREBBP):c.6806G>T (p.Gly2269Val)
NM_004380.3(CREBBP):c.6819G>C (p.Gln2273His)
NM_004380.3(CREBBP):c.6820A>G (p.Met2274Val) rs1306100144
NM_004380.3(CREBBP):c.7115C>T (p.Ser2372Leu)
NM_004380.3(CREBBP):c.7222A>C (p.Met2408Leu)
NM_004380.3(CREBBP):c.775G>T (p.Ala259Ser)
NM_004380.3(CREBBP):c.860C>T (p.Pro287Leu)
NM_004380.3(CREBBP):c.862A>T (p.Met288Leu)
NM_004380.3(CREBBP):c.884C>T (p.Pro295Leu)
NM_004380.3(CREBBP):c.942C>G (p.Ile314Met)
NM_004380.3(CREBBP):c.964G>A (p.Val322Met)

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