List of variants reported as pathogenic for Meckel syndrome by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_153240.5(NPHP3):c.2563C>T (p.Gln855Ter)	rs201237799	0.00002
NM_153240.5(NPHP3):c.469del (p.Arg157fs)	rs773760404	0.00002
NM_153240.5(NPHP3):c.3619C>T (p.Arg1207Ter)	rs780020801	0.00001

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