List of variants in gene DLL1 reported as pathogenic for neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures

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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: 17

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HGVS	dbSNP	gnomAD frequency
NM_005618.4(DLL1):c.1077C>G (p.Tyr359Ter)
NM_005618.4(DLL1):c.1250-1G>A	rs868738986
NM_005618.4(DLL1):c.1253_1259del (p.Ala418fs)
NM_005618.4(DLL1):c.1492G>T (p.Glu498Ter)	rs371262985
NM_005618.4(DLL1):c.1525C>T (p.Arg509Ter)	rs1583152162
NM_005618.4(DLL1):c.152del (p.Pro51fs)	rs1783805590
NM_005618.4(DLL1):c.1538dup (p.Pro514fs)
NM_005618.4(DLL1):c.162C>A (p.Cys54Ter)
NM_005618.4(DLL1):c.168C>A (p.Cys56Ter)	rs1248063937
NM_005618.4(DLL1):c.181del (p.Arg61fs)
NM_005618.4(DLL1):c.231C>A (p.Cys77Ter)	rs1583157635
NM_005618.4(DLL1):c.351+1G>T
NM_005618.4(DLL1):c.54+1G>A	rs1583158315
NM_005618.4(DLL1):c.552C>G (p.Tyr184Ter)
NM_005618.4(DLL1):c.635_636delinsAA (p.Cys212Ter)
NM_005618.4(DLL1):c.845dup (p.Leu283fs)	rs760008381
NM_005618.4(DLL1):c.883del (p.His295fs)

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