List of variants reported as likely pathogenic for Meckel syndrome by Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.417G>A (p.Glu139=)	rs386834048	0.00014
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)	rs121918203	0.00005
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter)	rs765468645	0.00002

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