List of variants reported as pathogenic for Jeune syndrome by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln)	rs781326398	0.00004
NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter)	rs371011047	0.00003
NM_001377.3(DYNC2H1):c.536G>A (p.Trp179Ter)	rs1223863177	0.00002
NM_001377.3(DYNC2H1):c.9817C>T (p.Gln3273Ter)	rs1322871899	0.00001
NM_001377.3(DYNC2H1):c.3459-1G>A	rs1860730801

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