List of variants in gene DLL4 reported as likely pathogenic for Adams-Oliver syndrome

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_019074.4(DLL4):c.1392C>A (p.Cys464Ter)	rs1596194950
NM_019074.4(DLL4):c.1396T>C (p.Cys466Arg)	rs2542549210
NM_019074.4(DLL4):c.1424G>C (p.Cys475Ser)
NM_019074.4(DLL4):c.187A>G (p.Lys63Glu)	rs2542541193
NM_019074.4(DLL4):c.329C>T (p.Thr110Ile)	rs2542541573
NM_019074.4(DLL4):c.784G>A (p.Gly262Ser)	rs2140369593
NM_019074.4(DLL4):c.82G>C (p.Gly28Arg)	rs1373760209
NM_019074.4(DLL4):c.949A>C (p.Thr317Pro)	rs1555393027

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