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

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.190+2T>C	rs375170572	0.00004
NM_017777.4(MKS1):c.515+1G>A	rs201933838	0.00001
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)	rs762633090	0.00001
NM_025114.4(CEP290):c.5012+2T>C	rs1369768287	0.00001
NM_001378615.1(CC2D2A):c.1466+1G>A
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)	rs1555599412
NM_017777.4(MKS1):c.868_871del (p.Arg290fs)
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)	rs1555220625
NM_025114.4(CEP290):c.3012del (p.Glu1005fs)	rs1555213204

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