List of variants reported as pathogenic for GRACILE syndrome by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 6

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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.205C>T (p.Arg69Cys)	rs377025174	0.00011
NM_001079866.2(BCS1L):c.325C>T (p.Arg109Trp)	rs141257714	0.00009
NC_000002.11:g.(?_219524378)_(219528167_?)del
NM_001079866.2(BCS1L):c.950_953del (p.Asp317fs)

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