ClinVar Miner

List of variants in gene CREBBP reported by ITMI

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Gene type:
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Total variants: 30
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HGVS dbSNP
NM_004380.3(CREBBP):c.1399G>A (p.Ala467Thr) rs202225861
NM_004380.3(CREBBP):c.1446G>T (p.Gln482His) rs587778216
NM_004380.3(CREBBP):c.1514C>T (p.Pro505Leu) rs369550568
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381
NM_004380.3(CREBBP):c.2050G>A (p.Ala684Thr) rs587778217
NM_004380.3(CREBBP):c.2068G>T (p.Ala690Ser) rs531539047
NM_004380.3(CREBBP):c.2539C>A (p.Pro847Thr) rs139050013
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649
NM_004380.3(CREBBP):c.271G>A (p.Ala91Thr) rs200673670
NM_004380.3(CREBBP):c.2728A>T (p.Thr910Ser) rs143247685
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val) rs141982003
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile) rs61731383
NM_004380.3(CREBBP):c.3029C>T (p.Pro1010Leu) rs139896431
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376
NM_004380.3(CREBBP):c.3199A>G (p.Ser1067Gly) rs587778210
NM_004380.3(CREBBP):c.346A>G (p.Ser116Gly) rs587778211
NM_004380.3(CREBBP):c.3611A>T (p.Tyr1204Phe) rs200346970
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011
NM_004380.3(CREBBP):c.5770G>A (p.Val1924Met) rs368145743
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840
NM_004380.3(CREBBP):c.5967del (p.Thr1990fs) rs587778213
NM_004380.3(CREBBP):c.6524A>G (p.Asn2175Ser) rs587778214
NM_004380.3(CREBBP):c.6658G>A (p.Gly2220Ser) rs141184151
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311
NM_004380.3(CREBBP):c.6956A>T (p.His2319Leu) rs587778215
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922
NM_004380.3(CREBBP):c.895A>G (p.Ser299Gly) rs149961222
NM_004380.3(CREBBP):c.964G>C (p.Val322Leu) rs587778212

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