List of variants reported as pathogenic for Bjornstad syndrome by Baylor Genetics

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly)	rs28937590	0.00042
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)	rs121908576	0.00030
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)	rs121908578	0.00011
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)	rs201454788	0.00005
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter)	rs776838028	0.00004
NM_001079866.2(BCS1L):c.548G>A (p.Arg183His)	rs121908577	0.00001
NM_001079866.2(BCS1L):c.556C>T (p.Arg186Ter)	rs779331797	0.00001
NM_001079866.2(BCS1L):c.696del (p.Gly233fs)	rs775388576	0.00001
NM_001079866.2(BCS1L):c.916C>T (p.Arg306Cys)	rs1197613485	0.00001
NM_001079866.2(BCS1L):c.917G>A (p.Arg306His)	rs1280810181	0.00001
NM_001079866.2(BCS1L):c.245C>A (p.Ser82Ter)	rs749196764
NM_001079866.2(BCS1L):c.296C>T (p.Pro99Leu)	rs121908572
NM_001079866.2(BCS1L):c.320+1G>T	rs386833856
NM_001079866.2(BCS1L):c.399del (p.Glu133fs)	rs751484879
NM_001079866.2(BCS1L):c.821del (p.Pro274fs)	rs760559534

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