List of variants reported as likely pathogenic for dysostosis by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_001031725.6(DDX59):c.1648AAT[2] (p.Asn552del)	rs1571603072
NM_003394.4(WNT10B):c.338-1G>C	rs1163162816
NM_006766.5(KAT6A):c.2218del (p.Arg740fs)	rs1587723169
NM_018010.4(IFT57):c.585+3A>G	rs1560127636
NM_019074.4(DLL4):c.1392C>A (p.Cys464Ter)	rs1596194950
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp)	rs765513105
NM_021224.6(ZNF462):c.6671_6672insG (p.Asp2224fs)	rs1588136019

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