List of variants reported as pathogenic for Meckel syndrome by Centre for Mendelian Genomics, University Medical Centre Ljubljana

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_153240.5(NPHP3):c.2694-2_2694-1del	rs751527253	0.00026
NM_153240.5(NPHP3):c.1381G>T (p.Glu461Ter)	rs119456961	0.00002

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