List of variants reported as benign for Jeune syndrome by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

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Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_014714.4(IFT140):c.3270+19T>C	rs2745176	0.96626
NM_001199397.3(NEK1):c.2765-20G>A	rs7680152	0.79844
NM_014714.4(IFT140):c.-17G>C	rs1894649	0.44364
NM_014714.4(IFT140):c.1968T>C (p.Ser656=)	rs8048410	0.42981
NM_014714.4(IFT140):c.2919C>T (p.Ala973=)	rs2235640	0.19119
NM_014714.4(IFT140):c.635-12G>C	rs12447357	0.18304
NM_001199397.3(NEK1):c.2255A>G (p.Glu752Gly)	rs34099167	0.09622
NM_001199397.3(NEK1):c.3033G>A (p.Pro1011=)	rs7655924	0.09091
NM_001199397.3(NEK1):c.607-3T>C	rs55679731	0.07330
NM_001199397.3(NEK1):c.1146T>C (p.Ile382=)	rs56064008	0.06017
NM_001199397.3(NEK1):c.1830A>G (p.Glu610=)	rs17544885	0.05849
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val)	rs2235638	0.05119
NM_001199397.3(NEK1):c.1388C>T (p.Ala463Val)	rs34540355	0.03694
NM_001199397.3(NEK1):c.1081-8dup	rs398124255
NM_014714.4(IFT140):c.836G>C (p.Arg279Pro)	rs4786350

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