List of variants reported as likely pathogenic for Rubinstein-Taybi syndrome by Invitae

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Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NC_000016.10:g.(?_3744874)_(3758992_?)del
NC_000016.9:g.(?_3786017)_(3786836_?)dup
NC_000016.9:g.(?_3786631)_(3790570_?)dup
NC_000016.9:g.(?_3829526)_(3830870_?)del
NM_001429.4(EP300):c.1282+1G>A
NM_001429.4(EP300):c.1878+1G>A	rs2058974109
NM_001429.4(EP300):c.3589A>T (p.Arg1197Trp)	rs1340981566
NM_001429.4(EP300):c.3729-1G>T	rs2145756375
NM_001429.4(EP300):c.4287-1G>T
NM_001429.4(EP300):c.5897del (p.Gly1966fs)
NM_004380.3(CREBBP):c.1574-2A>G	rs2141248421
NM_004380.3(CREBBP):c.2283+1G>T
NM_004380.3(CREBBP):c.2464-1G>A	rs2052993075
NM_004380.3(CREBBP):c.3248_3250+4del
NM_004380.3(CREBBP):c.4216G>T (p.Asp1406Tyr)	rs2052153254
NM_004380.3(CREBBP):c.4336C>T (p.Arg1446Cys)	rs398124146
NM_004380.3(CREBBP):c.4395-2A>C	rs2151330226
NM_004380.3(CREBBP):c.4615T>A (p.Tyr1539Asn)
NM_004380.3(CREBBP):c.5059T>C (p.Ser1687Pro)	rs61731407
NM_004380.3(CREBBP):c.5060C>T (p.Ser1687Phe)	rs2151316542
NM_004380.3(CREBBP):c.5600G>A (p.Arg1867Gln)	rs1131691326
NM_004380.3(CREBBP):c.5615T>C (p.Met1872Thr)	rs879255381

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