ClinVar Miner

List of variants in gene DLL4 studied for Adams-Oliver syndrome

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NM_019074.4(DLL4):c.1168T>C (p.Cys390Arg) rs796065347
NM_019074.4(DLL4):c.1169G>A (p.Cys390Tyr) rs796065346
NM_019074.4(DLL4):c.1240+5G>C rs1555393082
NM_019074.4(DLL4):c.1310G>C (p.Cys437Ser) rs1555393125
NM_019074.4(DLL4):c.1365C>G (p.Cys455Trp) rs796065345
NM_019074.4(DLL4):c.1397G>A (p.Cys466Tyr) rs1247027543
NM_019074.4(DLL4):c.1660C>T (p.Gln554Ter) rs796065344
NM_019074.4(DLL4):c.1672C>T (p.Arg558Ter) rs61750844
NM_019074.4(DLL4):c.1825C>T (p.Gln609Ter) rs1555393182
NM_019074.4(DLL4):c.265_267del (p.Phe89del) rs1555392837
NM_019074.4(DLL4):c.361G>C (p.Ala121Pro) rs796065350
NM_019074.4(DLL4):c.556C>T (p.Arg186Cys) rs796065348
NM_019074.4(DLL4):c.583T>C (p.Phe195Leu) rs796065351
NM_019074.4(DLL4):c.799C>A (p.Pro267Thr) rs796065349
NM_019074.4(DLL4):c.949A>C (p.Thr317Pro) rs1555393027

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