List of variants reported as likely pathogenic for Coffin-Siris syndrome 12

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)
GRCh37/hg19 19q13.33(chr19:48197371-48246391)
NM_001394372.1(BICRA):c.1509_1510insA (p.His504fs)
NM_001394372.1(BICRA):c.1933C>T (p.Gln645Ter)
NM_001394372.1(BICRA):c.2734_2737del (p.Pro912fs)
NM_001394372.1(BICRA):c.3529C>T (p.Arg1177Ter)	rs1375723922
NM_001394372.1(BICRA):c.386_401del (p.Phe129fs)	rs2123584685
NM_001394372.1(BICRA):c.4343dup (p.Pro1449fs)	rs1424525709

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