List of variants in gene DLL3, LOC130064417 studied for Spondylocostal dysostosis 1, autosomal recessive

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 17

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HGVS	dbSNP	gnomAD frequency
NM_203486.3(DLL3):c.410-40C>T	rs2278440	0.27956
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln)	rs55741253	0.06752
NM_203486.3(DLL3):c.543T>C (p.Pro181=)	rs115194365	0.00553
NM_203486.3(DLL3):c.618C>T (p.Pro206=)	rs192624990	0.00153
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.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
NM_203486.3(DLL3):c.546C>G (p.Ala182=)	rs8106337
NM_203486.3(DLL3):c.583A>G (p.Ser195Gly)	rs2079619248
NM_203486.3(DLL3):c.615C>T (p.Arg205=)	rs780088167
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala)	rs376905666
NM_203486.3(DLL3):c.618del (p.Cys207fs)	rs786200902

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