List of variants in gene CREBBP reported as uncertain significance for Menke-Hennekam syndrome 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.2438C>T (p.Pro813Leu)	rs150767375	0.00004
NM_004380.3(CREBBP):c.1108C>G (p.Arg370Gly)
NM_004380.3(CREBBP):c.1418C>T (p.Pro473Leu)	rs1185619320
NM_004380.3(CREBBP):c.1677-3T>C
NM_004380.3(CREBBP):c.2170T>A (p.Phe724Ile)	rs2053094536
NM_004380.3(CREBBP):c.4050T>A (p.Asn1350Lys)	rs2052177028
NM_004380.3(CREBBP):c.4490A>C (p.Lys1497Thr)
NM_004380.3(CREBBP):c.4579A>G (p.Thr1527Ala)	rs1186470200
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del)	rs1555471931
NM_004380.3(CREBBP):c.4903A>T (p.Ile1635Phe)
NM_004380.3(CREBBP):c.5366A>G (p.Asn1789Ser)	rs1064794963
NM_004380.3(CREBBP):c.5572_5592dup (p.Leu1864_Met1865insArgLeuGlnGlnAlaGlnLeu)
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln)	rs1131691326
NM_004380.3(CREBBP):c.6121T>C (p.Ser2041Pro)
NM_004380.3(CREBBP):c.6452G>A (p.Arg2151Gln)
NM_004380.3(CREBBP):c.7010C>T (p.Thr2337Met)
NM_004380.3(CREBBP):c.7118C>T (p.Pro2373Leu)	rs2051790513
NM_004380.3(CREBBP):c.7156G>A (p.Gly2386Arg)
NM_004380.3(CREBBP):c.7251G>A (p.Arg2417=)	rs2051785711

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