List of variants studied for Spondylocostal dysostosis 1, autosomal recessive by Revvity Omics, Revvity

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Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_203486.3(DLL3):c.915C>T (p.Tyr305=)	rs372702131	0.00004
NM_203486.3(DLL3):c.621C>A (p.Cys207Ter)	rs771875570	0.00001
NM_203486.3(DLL3):c.366_378del (p.Ile123fs)	rs2079604821
NM_203486.3(DLL3):c.395del (p.Gly132fs)	rs761454301
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs)	rs786200899

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