List of variants in gene combination DLL3, LOC130064417 reported as likely pathogenic for Spondylocostal dysostosis 1, autosomal recessive

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_203486.3(DLL3):c.621C>A (p.Cys207Ter)	rs771875570	0.00001
NM_203486.3(DLL3):c.474G>A (p.Trp158Ter)
NM_203486.3(DLL3):c.534C>A (p.Cys178Ter)	rs1447189148

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