List of variants studied for Rubinstein-Taybi syndrome due to CREBBP mutations by 3billion

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter)	rs587783464
NM_004380.3(CREBBP):c.2113+1G>C	rs2141232415
NM_004380.3(CREBBP):c.2284-2A>G
NM_004380.3(CREBBP):c.3369+1del	rs2151385509
NM_004380.3(CREBBP):c.3370-2A>G	rs866703165
NM_004380.3(CREBBP):c.3418del (p.Arg1140fs)	rs2151383848
NM_004380.3(CREBBP):c.3555del (p.Phe1185fs)
NM_004380.3(CREBBP):c.3907C>T (p.Pro1303Ser)	rs2151355349
NM_004380.3(CREBBP):c.3983-1G>C	rs2151341377
NM_004380.3(CREBBP):c.4013T>G (p.Leu1338Trp)	rs2151341032
NM_004380.3(CREBBP):c.4439A>G (p.Asp1480Gly)	rs886041286
NM_004380.3(CREBBP):c.4894TTC[1] (p.Phe1633del)	rs1555471931
NM_004380.3(CREBBP):c.5456G>A (p.Cys1819Tyr)
NM_004380.3(CREBBP):c.6241C>T (p.Gln2081Ter)	rs886041518
NM_004380.3(CREBBP):c.6250C>T (p.Gln2084Ter)	rs2051825168

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