ClinVar Miner

List of variants in gene CREBBP reported as likely benign by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 14
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HGVS dbSNP
NM_004380.3(CREBBP):c.1211G>C (p.Cys404Ser) rs587783462
NM_004380.3(CREBBP):c.1331-4A>G rs756291909
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011
NM_004380.3(CREBBP):c.4280+8T>C rs376814421
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430
NM_004380.3(CREBBP):c.5886C>A (p.Ile1962=) rs370565083
NM_004380.3(CREBBP):c.5934C>T (p.Asn1978=) rs754282387
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=) rs374969185
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220
NM_004380.3(CREBBP):c.6612_6614GCA[4] (p.Gln2216dup) rs779647460
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.7040C>T (p.Ala2347Val) rs182347573
NM_004380.3(CREBBP):c.7293G>A (p.Thr2431=) rs587783514

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