List of variants in gene CREBBP reported as uncertain significance by Fulgent Genetics, Fulgent Genetics

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: 35

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.5747T>C (p.Met1916Thr)	rs559294915	0.00013
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met)	rs369930675	0.00009
NM_004380.3(CREBBP):c.7184T>C (p.Ile2395Thr)	rs759047530	0.00009
NM_004380.3(CREBBP):c.164A>G (p.Asn55Ser)	rs587783466	0.00008
NM_004380.3(CREBBP):c.2505G>T (p.Met835Ile)	rs759041100	0.00004
NM_004380.3(CREBBP):c.2598G>T (p.Met866Ile)	rs771016864	0.00004
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala)	rs749249146	0.00004
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=)	rs750845399	0.00004
NM_004380.3(CREBBP):c.2860G>A (p.Ala954Thr)	rs373284909	0.00003
NM_004380.3(CREBBP):c.3233C>T (p.Ser1078Leu)	rs942848385	0.00003
NM_004380.3(CREBBP):c.5740G>A (p.Val1914Met)	rs760771706	0.00003
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val)	rs745551441	0.00003
NM_004380.3(CREBBP):c.7125C>T (p.His2375=)	rs746116315	0.00003
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg)	rs766320521	0.00001
NM_004380.3(CREBBP):c.1585A>G (p.Met529Val)	rs747187975	0.00001
NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser)	rs148166625	0.00001
NM_004380.3(CREBBP):c.3641A>G (p.Tyr1214Cys)	rs1272691121	0.00001
NM_004380.3(CREBBP):c.4121G>C (p.Gly1374Ala)	rs2052174869	0.00001
NM_004380.3(CREBBP):c.4709C>T (p.Ala1570Val)	rs1186493453	0.00001
NM_004380.3(CREBBP):c.4890+6C>T	rs1567265838	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.6449C>T (p.Pro2150Leu)	rs587783512	0.00001
NM_004380.3(CREBBP):c.6550A>G (p.Ser2184Gly)	rs398124149	0.00001
NM_004380.3(CREBBP):c.2303G>A (p.Arg768Gln)	rs754386072
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg)	rs147805823
NM_004380.3(CREBBP):c.2417T>A (p.Met806Lys)	rs1596895058
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr)	rs750178517
NM_004380.3(CREBBP):c.3974G>T (p.Ser1325Ile)	rs760292945
NM_004380.3(CREBBP):c.4141G>A (p.Asp1381Asn)	rs2052155279
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln)	rs765600316
NM_004380.3(CREBBP):c.5969_5977del (p.Thr1990_Gly1992del)	rs777318563
NM_004380.3(CREBBP):c.6594GCA[3] (p.Gln2215_Gln2216del)	rs746121736
NM_004380.3(CREBBP):c.7210G>A (p.Glu2404Lys)	rs863223334
NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala)	rs1597053070

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