List of variants reported as uncertain significance for Rubinstein-Taybi syndrome by Wessex Regional Genetics Laboratory, Salisbury District Hospital

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.437C>T (p.Ala146Val)	rs1295662710	0.00001
NM_001429.4(EP300):c.6607C>G (p.Pro2203Ala)	rs1358846937
NM_004380.3(CREBBP):c.2417T>G (p.Met806Arg)	rs1596895058
NM_004380.3(CREBBP):c.3698+5G>T	rs1596852349
NM_004380.3(CREBBP):c.4279A>G (p.Arg1427Gly)	rs794727401
NM_004380.3(CREBBP):c.4394+3_4394+7del	rs1596810185
NM_004380.3(CREBBP):c.4559A>T (p.Lys1520Met)	rs1596805575
NM_004380.3(CREBBP):c.772A>G (p.Thr258Ala)	rs1597053070

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