List of variants reported as likely pathogenic for Spondylocostal dysostosis 1, autosomal recessive

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Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_203486.3(DLL3):c.945_946del (p.Ala317fs)	rs786200900	0.00004
NM_203486.3(DLL3):c.621C>A (p.Cys207Ter)	rs771875570	0.00001
NM_203486.3(DLL3):c.1272dup (p.Asp425fs)
NM_203486.3(DLL3):c.1312T>A (p.Cys438Ser)
NM_203486.3(DLL3):c.366_378del (p.Ile123fs)	rs2079604821
NM_203486.3(DLL3):c.474G>A (p.Trp158Ter)
NM_203486.3(DLL3):c.534C>A (p.Cys178Ter)	rs1447189148

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