ClinVar Miner

List of variants in gene DLL4 studied for Adams-Oliver syndrome 6

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Total variants: 20
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HGVS dbSNP gnomAD frequency
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.1392C>A (p.Cys464Ter) rs1596194950
NM_019074.4(DLL4):c.1396T>C (p.Cys466Arg)
NM_019074.4(DLL4):c.1397G>A (p.Cys466Tyr) rs1247027543
NM_019074.4(DLL4):c.1429G>T (p.Val477Leu)
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.1857_1864del (p.Pro621fs) rs1892853569
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.382G>A (p.Asp128Asn) rs374022749
NM_019074.4(DLL4):c.556C>T (p.Arg186Cys) rs796065348
NM_019074.4(DLL4):c.784G>A (p.Gly262Ser) rs2140369593
NM_019074.4(DLL4):c.799C>A (p.Pro267Thr) rs796065349
NM_019074.4(DLL4):c.82G>C (p.Gly28Arg) rs1373760209
NM_019074.4(DLL4):c.949A>C (p.Thr317Pro) rs1555393027

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