ClinVar Miner

List of variants in gene CREBBP reported as uncertain significance by GeneDx

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Total variants: 10
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HGVS dbSNP
NM_001079846.1(CREBBP):c.1132C>T (p.Arg378Trp) rs1064796292
NM_001079846.1(CREBBP):c.1300A>T (p.Asn434Tyr) rs1064796426
NM_001079846.1(CREBBP):c.1855A>G (p.Lys619Glu) rs1131691431
NM_001079846.1(CREBBP):c.3078G>C (p.Glu1026Asp) rs1064794818
NM_001079846.1(CREBBP):c.3279T>A (p.Asn1093Lys) rs1131691779
NM_001079846.1(CREBBP):c.5090C>T (p.Thr1697Met) rs1064793090
NM_001079846.1(CREBBP):c.5830C>A (p.Pro1944Thr) rs376149838
NM_001079846.1(CREBBP):c.6223C>A (p.Pro2075Thr) rs1064796746
NM_001079846.1(CREBBP):c.6767G>A (p.Arg2256Gln) rs1064793091
NM_001079846.1(CREBBP):c.6949C>T (p.Gln2317Ter) rs1179308620

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