ClinVar Miner

List of variants in gene CREBBP reported as uncertain significance for not specified

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Gene type:
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Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_004380.3(CREBBP):c.6814G>A (p.Gly2272Ser) rs1351901078 0.00014
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met) rs766085073 0.00004
NM_004380.3(CREBBP):c.2635C>T (p.Pro879Ser) rs779479811 0.00003
NM_004380.3(CREBBP):c.5204C>T (p.Thr1735Met) rs1064793090 0.00002
NM_004380.3(CREBBP):c.1331-12T>C rs779542354 0.00001
NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser) rs148166625 0.00001
NM_004380.3(CREBBP):c.4709C>T (p.Ala1570Val) rs1186493453 0.00001
NM_004380.3(CREBBP):c.7222A>G (p.Met2408Val) rs372005280 0.00001
NM_004380.3(CREBBP):c.1574-4A>T rs2141248432
NM_004380.3(CREBBP):c.1934A>G (p.Asn645Ser)
NM_004380.3(CREBBP):c.2208A>G (p.Gln736=) rs1300711905
NM_004380.3(CREBBP):c.2348T>G (p.Met783Arg)
NM_004380.3(CREBBP):c.2360C>T (p.Ala787Val)
NM_004380.3(CREBBP):c.2921C>A (p.Thr974Asn)
NM_004380.3(CREBBP):c.3983-8C>T
NM_004380.3(CREBBP):c.4267C>T (p.Pro1423Ser) rs797045493
NM_004380.3(CREBBP):c.503C>T (p.Thr168Met)
NM_004380.3(CREBBP):c.5615T>C (p.Met1872Thr) rs879255381
NM_004380.3(CREBBP):c.5714C>A (p.Pro1905His)
NM_004380.3(CREBBP):c.5962_5979del (p.Met1988_Ser1993del)
NM_004380.3(CREBBP):c.743C>T (p.Pro248Leu)

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