List of variants studied for short rib dysplasia by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 8

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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_014714.4(IFT140):c.3209C>T (p.Ala1070Val)	rs2235638	0.05119
NM_052989.3(IFT122):c.1993-7G>C	rs2285354

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