List of variants in gene DLL3 reported as 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: 8

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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.1136G>A (p.Cys379Tyr)	rs786205519	0.00003
NM_203486.3(DLL3):c.712C>T (p.Arg238Ter)	rs104894675	0.00001
NM_203486.3(DLL3):c.1154G>A (p.Gly385Asp)	rs104894674
NM_203486.3(DLL3):c.1339_1340insT (p.His447fs)
NM_203486.3(DLL3):c.1440del (p.Pro481fs)	rs786200903
NM_203486.3(DLL3):c.395del (p.Gly132fs)	rs761454301
NM_203486.3(DLL3):c.871-1G>A	rs2144761828

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