ClinVar Miner

List of variants in gene CREBBP reported as not provided for not specified

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Total variants: 30
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HGVS dbSNP
NM_001079846.1(CREBBP):c.1285G>A (p.Ala429Thr) rs202225861
NM_001079846.1(CREBBP):c.1332G>T (p.Gln444His) rs587778216
NM_001079846.1(CREBBP):c.1400C>T (p.Pro467Leu) rs369550568
NM_001079846.1(CREBBP):c.1537C>A (p.Leu513Ile) rs61753381
NM_001079846.1(CREBBP):c.1936G>A (p.Ala646Thr) rs587778217
NM_001079846.1(CREBBP):c.1954G>T (p.Ala652Ser) rs531539047
NM_001079846.1(CREBBP):c.2425C>A (p.Pro809Thr) rs139050013
NM_001079846.1(CREBBP):c.2458C>T (p.Pro820Ser) rs145733598
NM_001079846.1(CREBBP):c.2564C>T (p.Ser855Leu) rs142047649
NM_001079846.1(CREBBP):c.2614A>T (p.Thr872Ser) rs143247685
NM_001079846.1(CREBBP):c.271G>A (p.Ala91Thr) rs200673670
NM_001079846.1(CREBBP):c.2827G>A (p.Ala943Thr) rs61753380
NM_001079846.1(CREBBP):c.2860G>A (p.Val954Ile) rs61731383
NM_001079846.1(CREBBP):c.2915C>T (p.Pro972Leu) rs139896431
NM_001079846.1(CREBBP):c.293G>T (p.Gly98Val) rs141982003
NM_001079846.1(CREBBP):c.3014C>T (p.Ser1005Leu) rs61731376
NM_001079846.1(CREBBP):c.3085A>G (p.Ser1029Gly) rs587778210
NM_001079846.1(CREBBP):c.346A>G (p.Ser116Gly) rs587778211
NM_001079846.1(CREBBP):c.3497A>T (p.Tyr1166Phe) rs200346970
NM_001079846.1(CREBBP):c.383C>G (p.Ser128Cys) rs55790011
NM_001079846.1(CREBBP):c.5656G>A (p.Val1886Met) rs368145743
NM_001079846.1(CREBBP):c.5819A>G (p.Asn1940Ser) rs112906840
NM_001079846.1(CREBBP):c.5853del (p.Thr1952fs) rs587778213
NM_001079846.1(CREBBP):c.6410A>G (p.Asn2137Ser) rs587778214
NM_001079846.1(CREBBP):c.6544G>A (p.Gly2182Ser) rs141184151
NM_001079846.1(CREBBP):c.6571G>A (p.Gly2191Ser) rs139688311
NM_001079846.1(CREBBP):c.6842A>T (p.His2281Leu) rs587778215
NM_001079846.1(CREBBP):c.760G>A (p.Ala254Thr) rs148781922
NM_001079846.1(CREBBP):c.895A>G (p.Ser299Gly) rs149961222
NM_001079846.1(CREBBP):c.964G>C (p.Val322Leu) rs587778212

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