ClinVar Miner

List of variants in gene CREBBP reported as likely pathogenic for not provided

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Gene type:
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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.5356C>T (p.Arg1786Cys) rs1555471394 0.00001
NM_004380.3(CREBBP):c.1100G>T (p.Cys367Phe) rs1057518498
NM_004380.3(CREBBP):c.1625_1649del (p.Pro542fs) rs2141247434
NM_004380.3(CREBBP):c.2085del (p.Pro696fs)
NM_004380.3(CREBBP):c.249_251delinsT (p.Pro84fs) rs2141495910
NM_004380.3(CREBBP):c.3369+1G>T rs587783480
NM_004380.3(CREBBP):c.3743A>T (p.Asn1248Ile) rs1555476935
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004380.3(CREBBP):c.4184C>A (p.Ala1395Asp) rs1064796948
NM_004380.3(CREBBP):c.4269del (p.Pro1424fs) rs2151336580
NM_004380.3(CREBBP):c.4340C>T (p.Thr1447Ile) rs2151334254
NM_004380.3(CREBBP):c.4358T>C (p.Ile1453Thr) rs1064795050
NM_004380.3(CREBBP):c.4442A>G (p.Asp1481Gly) rs2151329858
NM_004380.3(CREBBP):c.4481C>G (p.Pro1494Arg) rs398124147
NM_004380.3(CREBBP):c.4520T>C (p.Leu1507Pro) rs1057520191
NM_004380.3(CREBBP):c.4890+2T>C rs786205495
NM_004380.3(CREBBP):c.4991G>A (p.Arg1664His) rs1596791996
NM_004380.3(CREBBP):c.5120G>C (p.Cys1707Ser) rs1064795089
NM_004380.3(CREBBP):c.5218C>A (p.His1740Asn) rs1596788162
NM_004380.3(CREBBP):c.5219A>G (p.His1740Arg) rs1567263724
NM_004380.3(CREBBP):c.5315T>A (p.Ile1772Asn) rs2151311733
NM_004380.3(CREBBP):c.5323T>C (p.Cys1775Arg) rs1057524802
NM_004380.3(CREBBP):c.5345C>T (p.Ala1782Val) rs2051858361
NM_004380.3(CREBBP):c.5361_5432del (p.Asn1787_Arg1810del) rs1555471385
NM_004380.3(CREBBP):c.5362G>A (p.Ala1788Thr) rs1064795794
NM_004380.3(CREBBP):c.5366A>C (p.Asn1789Thr) rs1064794963
NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser) rs1064794963
NM_004380.3(CREBBP):c.5551C>T (p.Arg1851Cys) rs763253161
NM_004380.3(CREBBP):c.5563_5583dup (p.Ile1855_Gln1861dup) rs1555471355
NM_004380.3(CREBBP):c.5570A>C (p.His1857Pro) rs1064795628
NM_004380.3(CREBBP):c.5623del (p.Arg1875fs) rs1064796056
NM_004380.3(CREBBP):c.5830dup (p.Ala1944fs) rs1567262786
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs) rs587783507
NM_004380.3(CREBBP):c.6310C>T (p.Arg2104Cys)
NM_004380.3(CREBBP):c.6988C>T (p.Leu2330Phe) rs1064796531

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