List of variants studied for Spondylocostal dysostosis 1, autosomal recessive by Fulgent Genetics, Fulgent Genetics

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Total variants: 11

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HGVS	dbSNP	gnomAD frequency
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln)	rs55741253	0.06752
NM_203486.3(DLL3):c.286G>A (p.Ala96Thr)	rs546600885	0.00010
NM_203486.3(DLL3):c.1036C>T (p.Gln346Ter)
NM_203486.3(DLL3):c.1200C>A (p.Cys400Ter)
NM_203486.3(DLL3):c.1441_1459del (p.Pro481fs)
NM_203486.3(DLL3):c.241del (p.Ala81fs)
NM_203486.3(DLL3):c.395del (p.Gly132fs)	rs761454301
NM_203486.3(DLL3):c.534C>A (p.Cys178Ter)	rs1447189148
NM_203486.3(DLL3):c.546_547del (p.Val183fs)
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs)	rs786200899
NM_203486.3(DLL3):c.652+1G>T

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