ClinVar Miner

List of variants reported as uncertain significance for Adams-Oliver syndrome by Centre of Medical Genetics, University of Antwerp

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_017617.5(NOTCH1):c.1220C>G (p.Pro407Arg) rs754529382
NM_017617.5(NOTCH1):c.1582G>A (p.Asp528Asn) rs757988142
NM_017617.5(NOTCH1):c.4241G>C (p.Cys1414Ser) rs1554728005
NM_017617.5(NOTCH1):c.5218G>T (p.Ala1740Ser) rs864622062
NM_017617.5(NOTCH1):c.5272C>G (p.Arg1758Gly) rs777859108
NM_017617.5(NOTCH1):c.5452C>G (p.Leu1818Val) rs1064796983
NM_017617.5(NOTCH1):c.6100T>C (p.Trp2034Arg) rs1554826698
NM_017617.5(NOTCH1):c.6128C>T (p.Ala2043Val) rs1554826688
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815
NM_019074.4(DLL4):c.1240+5G>C rs1555393082
NM_019074.4(DLL4):c.265_267del (p.Phe89del) rs1555392837
NM_019074.4(DLL4):c.799C>A (p.Pro267Thr) rs796065349
NM_020812.4(DOCK6):c.2104G>A (p.Gly702Ser) rs199838752
NM_020812.4(DOCK6):c.2767G>A (p.Val923Ile) rs143194982

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