List of variants reported as uncertain significance for Spondylocostal dysostosis 1, autosomal recessive by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 8

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HGVS	dbSNP	gnomAD frequency
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg)	rs145191532	0.00034
NM_203486.3(DLL3):c.1376A>T (p.Tyr459Phe)	rs572290101	0.00017
NM_203486.3(DLL3):c.1056G>T (p.Lys352Asn)	rs376526613	0.00007
NM_203486.3(DLL3):c.1187C>T (p.Ala396Val)	rs747708804	0.00002
NM_203486.3(DLL3):c.409+6T>C	rs995675341	0.00001
NM_203486.3(DLL3):c.1398C>A (p.Phe466Leu)	rs777442783
NM_203486.3(DLL3):c.221A>C (p.Glu74Ala)	rs1600751637
NM_203486.3(DLL3):c.982G>T (p.Val328Phe)	rs749513254

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