List of variants in gene DLL3 reported as likely benign 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: 16

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HGVS	dbSNP	gnomAD frequency
NM_203486.3(DLL3):c.1384G>A (p.Ala462Thr)	rs182454962	0.00494
NM_203486.3(DLL3):c.409+61G>A	rs377405105	0.00384
NM_203486.3(DLL3):c.1307G>A (p.Arg436His)	rs199831437	0.00317
NM_203486.3(DLL3):c.160C>A (p.Leu54Ile)	rs200673897	0.00285
NM_203486.3(DLL3):c.390G>A (p.Glu130=)	rs113780398	0.00200
NM_203486.3(DLL3):c.352-15C>T	rs201902809	0.00135
NM_203486.3(DLL3):c.63C>T (p.Leu21=)	rs146255899	0.00109
NM_203486.3(DLL3):c.153C>T (p.Ser51=)	rs373980582	0.00061
NM_203486.3(DLL3):c.1388G>T (p.Arg463Leu)	rs758148689	0.00053
NM_203486.3(DLL3):c.1356C>T (p.Val452=)	rs554268445	0.00050
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg)	rs145191532	0.00034
NM_203486.3(DLL3):c.*38A>G	rs200982994	0.00018
NM_203486.3(DLL3):c.870+12C>G	rs180859782	0.00012
NM_203486.3(DLL3):c.409+19G>T	rs201227250	0.00004
NM_203486.3(DLL3):c.984C>T (p.Val328=)	rs138378695	0.00004
NM_203486.3(DLL3):c.138G>A (p.Pro46=)	rs987371248	0.00001

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