List of variants in gene CREBBP reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 48

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.2668A>C (p.Thr890Pro)	rs370012973	0.00004
NM_004380.3(CREBBP):c.6056G>T (p.Gly2019Val)	rs771420935	0.00004
NM_004380.3(CREBBP):c.271G>T (p.Ala91Ser)	rs200673670	0.00003
NM_004380.3(CREBBP):c.4948G>A (p.Val1650Ile)	rs776549587	0.00003
NM_004380.3(CREBBP):c.6516C>T (p.Asn2172=)	rs763852812	0.00003
NM_004380.3(CREBBP):c.7125C>T (p.His2375=)	rs746116315	0.00003
NM_004380.3(CREBBP):c.2615C>T (p.Thr872Met)	rs747877878	0.00002
NM_004380.3(CREBBP):c.105C>G (p.Asp35Glu)	rs372495787	0.00001
NM_004380.3(CREBBP):c.1135G>T (p.Ala379Ser)	rs1596947691
NM_004380.3(CREBBP):c.2077C>G (p.Pro693Ala)
NM_004380.3(CREBBP):c.2236C>T (p.Pro746Ser)	rs1178646853
NM_004380.3(CREBBP):c.2306T>A (p.Met769Lys)
NM_004380.3(CREBBP):c.2488C>T (p.Pro830Ser)
NM_004380.3(CREBBP):c.254G>A (p.Gly85Glu)	rs2141495853
NM_004380.3(CREBBP):c.2631G>C (p.Met877Ile)
NM_004380.3(CREBBP):c.2735C>T (p.Thr912Ile)	rs1567299077
NM_004380.3(CREBBP):c.283G>A (p.Val95Met)	rs756802946
NM_004380.3(CREBBP):c.3136A>G (p.Met1046Val)
NM_004380.3(CREBBP):c.3349C>T (p.Pro1117Ser)
NM_004380.3(CREBBP):c.3354G>C (p.Gln1118His)	rs2052645597
NM_004380.3(CREBBP):c.3604C>T (p.Arg1202Cys)
NM_004380.3(CREBBP):c.3609+5A>G
NM_004380.3(CREBBP):c.3701A>G (p.Tyr1234Cys)	rs2052480703
NM_004380.3(CREBBP):c.3889C>T (p.His1297Tyr)	rs1057521558
NM_004380.3(CREBBP):c.4011C>G (p.His1337Gln)
NM_004380.3(CREBBP):c.4423C>T (p.Pro1475Ser)
NM_004380.3(CREBBP):c.4459C>T (p.His1487Tyr)	rs1057519207
NM_004380.3(CREBBP):c.4529C>T (p.Ala1510Val)	rs780939128
NM_004380.3(CREBBP):c.4554C>G (p.Asp1518Glu)
NM_004380.3(CREBBP):c.463G>A (p.Ala155Thr)
NM_004380.3(CREBBP):c.5011G>A (p.Ala1671Thr)	rs2151316910
NM_004380.3(CREBBP):c.5088C>A (p.His1696Gln)	rs1567265249
NM_004380.3(CREBBP):c.5785C>A (p.Pro1929Thr)
NM_004380.3(CREBBP):c.5786C>A (p.Pro1929His)
NM_004380.3(CREBBP):c.5828C>T (p.Pro1943Leu)
NM_004380.3(CREBBP):c.589T>G (p.Leu197Val)	rs2054808403
NM_004380.3(CREBBP):c.5996G>C (p.Ser1999Thr)	rs2051834458
NM_004380.3(CREBBP):c.6109A>G (p.Arg2037Gly)
NM_004380.3(CREBBP):c.6303C>G (p.Ile2101Met)
NM_004380.3(CREBBP):c.6343A>G (p.Met2115Val)
NM_004380.3(CREBBP):c.6478G>A (p.Ala2160Thr)
NM_004380.3(CREBBP):c.6557A>T (p.Asn2186Ile)	rs1358192617
NM_004380.3(CREBBP):c.6588G>T (p.Gln2196His)
NM_004380.3(CREBBP):c.6700C>T (p.Pro2234Ser)	rs759823393
NM_004380.3(CREBBP):c.6925G>A (p.Gly2309Ser)	rs2151300466
NM_004380.3(CREBBP):c.7018A>C (p.Ser2340Arg)
NM_004380.3(CREBBP):c.7039G>A (p.Ala2347Thr)	rs2151299673
NM_004380.3(CREBBP):c.743C>T (p.Pro248Leu)

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