ClinVar Miner

List of variants in gene CREBBP reported as likely benign by Ambry Genetics

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Gene type:
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Total variants: 69
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HGVS dbSNP
NM_004380.2(CREBBP):c.1026A>G (p.Thr342=)
NM_004380.2(CREBBP):c.1149G>A (p.Pro383=) rs61759495
NM_004380.2(CREBBP):c.1732C>T (p.Pro578Ser) rs148023511
NM_004380.2(CREBBP):c.1743T>G (p.Ala581=)
NM_004380.2(CREBBP):c.1924G>A (p.Glu642Lys)
NM_004380.2(CREBBP):c.2067G>A (p.Gly689=)
NM_004380.2(CREBBP):c.2118A>G (p.Gly706=)
NM_004380.2(CREBBP):c.2319G>A (p.Pro773=)
NM_004380.2(CREBBP):c.2482G>T (p.Ala828Ser)
NM_004380.2(CREBBP):c.2616G>A (p.Thr872=) rs781112420
NM_004380.2(CREBBP):c.2647G>T (p.Ala883Ser)
NM_004380.2(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649
NM_004380.2(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.2(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.2(CREBBP):c.2811G>A (p.Pro937=) rs146168040
NM_004380.2(CREBBP):c.2973C>T (p.Asp991=) rs142528559
NM_004380.2(CREBBP):c.3003C>G (p.Thr1001=)
NM_004380.2(CREBBP):c.3021G>C (p.Glu1007Asp)
NM_004380.2(CREBBP):c.3029C>T (p.Pro1010Leu) rs139896431
NM_004380.2(CREBBP):c.3239C>T (p.Pro1080Leu)
NM_004380.2(CREBBP):c.333C>T (p.Asn111=) rs150229705
NM_004380.2(CREBBP):c.3370-4dup
NM_004380.2(CREBBP):c.3465C>T (p.Asp1155=)
NM_004380.2(CREBBP):c.3831C>T (p.Pro1277=)
NM_004380.2(CREBBP):c.414C>T (p.Ala138=)
NM_004380.2(CREBBP):c.4251C>T (p.Tyr1417=)
NM_004380.2(CREBBP):c.435C>T (p.Pro145=)
NM_004380.2(CREBBP):c.4494A>G (p.Arg1498=) rs149560660
NM_004380.2(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901
NM_004380.2(CREBBP):c.4944C>A (p.Pro1648=)
NM_004380.2(CREBBP):c.5232G>A (p.Lys1744=)
NM_004380.2(CREBBP):c.5241G>T (p.Leu1747=)
NM_004380.2(CREBBP):c.5271C>T (p.Gly1757=)
NM_004380.2(CREBBP):c.5292C>T (p.Pro1764=)
NM_004380.2(CREBBP):c.5346G>A (p.Ala1782=)
NM_004380.2(CREBBP):c.5436C>G (p.Thr1812=) rs61731405
NM_004380.2(CREBBP):c.5667G>A (p.Pro1889=)
NM_004380.2(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883
NM_004380.2(CREBBP):c.5769C>T (p.Ser1923=)
NM_004380.2(CREBBP):c.5829G>A (p.Pro1943=) rs546554430
NM_004380.2(CREBBP):c.5865G>A (p.Ala1955=)
NM_004380.2(CREBBP):c.5874G>C (p.Ala1958=)
NM_004380.2(CREBBP):c.5898C>A (p.Ala1966=)
NM_004380.2(CREBBP):c.5934C>T (p.Asn1978=) rs754282387
NM_004380.2(CREBBP):c.594T>C (p.Ile198=)
NM_004380.2(CREBBP):c.5958G>A (p.Thr1986=)
NM_004380.2(CREBBP):c.5973G>A (p.Pro1991=)
NM_004380.2(CREBBP):c.6003T>C (p.Asn2001=) rs200998860
NM_004380.2(CREBBP):c.6033C>T (p.Pro2011=)
NM_004380.2(CREBBP):c.6141C>T (p.Ala2047=)
NM_004380.2(CREBBP):c.6165C>T (p.Ser2055=)
NM_004380.2(CREBBP):c.6195C>T (p.Ser2065=)
NM_004380.2(CREBBP):c.6340G>A (p.Gly2114Ser) rs139169188
NM_004380.2(CREBBP):c.6402C>T (p.His2134=)
NM_004380.2(CREBBP):c.6450G>A (p.Pro2150=)
NM_004380.2(CREBBP):c.6516C>T (p.Asn2172=) rs763852812
NM_004380.2(CREBBP):c.6524A>G (p.Asn2175Ser) rs587778214
NM_004380.2(CREBBP):c.6564G>A (p.Gln2188=) rs73491896
NM_004380.2(CREBBP):c.6609delAinsGCAG (p.Gln2216_Gly2217insGln)
NM_004380.2(CREBBP):c.6618_6620dupGCA (p.Gln2216_Gly2217insGln) rs779647460
NM_004380.2(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.2(CREBBP):c.6684C>T (p.His2228=)
NM_004380.2(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311
NM_004380.2(CREBBP):c.675G>A (p.Pro225=)
NM_004380.2(CREBBP):c.681T>C (p.Pro227=)
NM_004380.2(CREBBP):c.6849C>T (p.Ser2283=) rs148904096
NM_004380.2(CREBBP):c.7302G>A (p.Thr2434=) rs144609433
NM_004380.2(CREBBP):c.760G>A (p.Ala254Thr) rs148781922
NM_004380.2(CREBBP):c.895A>G (p.Ser299Gly) rs149961222

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