List of variants in gene combination DLL3, LOC130064417 reported as uncertain significance 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_203486.3(DLL3):c.652+15C>T	rs528327447	0.00078
NM_203486.3(DLL3):c.452G>A (p.Arg151His)	rs768310008	0.00015
NM_203486.3(DLL3):c.564G>T (p.Thr188=)	rs767676342	0.00015
NM_203486.3(DLL3):c.620G>A (p.Cys207Tyr)	rs886054432	0.00005
NM_203486.3(DLL3):c.478C>T (p.Arg160Trp)	rs376907733	0.00001
NM_203486.3(DLL3):c.583A>G (p.Ser195Gly)	rs2079619248
NM_203486.3(DLL3):c.615C>T (p.Arg205=)	rs780088167

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