ClinVar Miner

List of variants in gene NEU1 reported as pathogenic for carbohydrate metabolism disease

Included ClinVar conditions (161):
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Gene type:
ClinVar version:
Total variants: 23
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NEU1, 1-BP DEL, 1337C
NM_000434.4(NEU1):c.1021+1G>C rs1486980139
NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter)
NM_000434.4(NEU1):c.1088T>C (p.Leu363Pro) rs193922915
NM_000434.4(NEU1):c.1109A>G (p.Tyr370Cys) rs1310267862
NM_000434.4(NEU1):c.1129G>T (p.Glu377Ter) rs104893971
NM_000434.4(NEU1):c.114_115del (p.Leu40fs) rs754405067
NM_000434.4(NEU1):c.1170C>G (p.Tyr390Ter) rs746607723
NM_000434.4(NEU1):c.239C>T (p.Pro80Leu) rs104893985
NM_000434.4(NEU1):c.272T>G (p.Leu91Arg) rs104893972
NM_000434.4(NEU1):c.353-2A>G rs864309513
NM_000434.4(NEU1):c.544A>G (p.Ser182Gly) rs398123392
NM_000434.4(NEU1):c.625del (p.Glu209fs) rs1581820081
NM_000434.4(NEU1):c.649G>A (p.Val217Met) rs28940583
NM_000434.4(NEU1):c.674G>C (p.Arg225Pro) rs104893980
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg) rs769765227
NM_000434.4(NEU1):c.69G>A (p.Trp23Ter) rs104893986
NM_000434.4(NEU1):c.718T>C (p.Trp240Arg) rs104893978
NM_000434.4(NEU1):c.727G>A (p.Gly243Arg) rs104893983
NM_000434.4(NEU1):c.779T>A (p.Phe260Tyr) rs104893977
NM_000434.4(NEU1):c.87G>A (p.Trp29Ter) rs104893984
NM_000434.4(NEU1):c.893C>T (p.Ala298Val) rs104893981
NM_000434.4(NEU1):c.946C>T (p.Pro316Ser) rs104893979

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