ClinVar Miner

List of variants in gene NEU1 studied for glycoproteinosis

Included ClinVar conditions (24):
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Gene type:
ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_000434.4(NEU1):c.-40T>G rs41267082 0.03529
NM_000434.4(NEU1):c.263G>C (p.Gly88Ala) rs34712643 0.02415
NM_000434.4(NEU1):c.*445T>G rs113824527 0.00175
NM_000434.4(NEU1):c.408G>A (p.Gly136=) rs41267074 0.00106
NM_000434.4(NEU1):c.*596G>T rs749671704 0.00098
NM_000434.4(NEU1):c.432C>T (p.Ser144=) rs114405905 0.00089
NM_000434.4(NEU1):c.402C>T (p.Pro134=) rs142833447 0.00068
NM_000434.4(NEU1):c.486C>T (p.Ala162=) rs115588976 0.00026
NM_000434.4(NEU1):c.-42T>C rs373597058 0.00025
NM_000434.4(NEU1):c.*581G>A rs551222239 0.00020
NM_000434.4(NEU1):c.*524C>T rs886061286 0.00018
NM_000434.4(NEU1):c.649G>A (p.Val217Met) rs28940583 0.00017
NM_000434.4(NEU1):c.*294G>A rs908745663 0.00009
NM_000434.4(NEU1):c.1107C>A (p.Gly369=) rs150864071 0.00009
NM_000434.4(NEU1):c.*454A>G rs886061287 0.00008
NM_000434.4(NEU1):c.1170C>T (p.Tyr390=) rs746607723 0.00004
NM_000434.4(NEU1):c.1189C>T (p.Arg397Trp) rs765074909 0.00004
NM_000434.4(NEU1):c.*269C>T rs886061288 0.00003
NM_000434.4(NEU1):c.249A>C (p.Thr83=) rs954742285 0.00003
NM_000434.4(NEU1):c.*180G>A rs968121109 0.00002
NM_000434.4(NEU1):c.799-4T>C rs759065536 0.00002
NM_000434.4(NEU1):c.893C>T (p.Ala298Val) rs104893981 0.00002
NM_000434.4(NEU1):c.982G>A (p.Gly328Ser) rs534846786 0.00002
NM_000434.3(NEU1):c.-49C>T rs374172739 0.00001
NM_000434.3(NEU1):c.-76C>G rs566696697 0.00001
NM_000434.4(NEU1):c.-13G>A rs886061291 0.00001
NM_000434.4(NEU1):c.1088T>C (p.Leu363Pro) rs193922915 0.00001
NM_000434.4(NEU1):c.1089A>G (p.Leu363=) rs757684373 0.00001
NM_000434.4(NEU1):c.1217T>A (p.Val406Glu) rs1762428314 0.00001
NM_000434.4(NEU1):c.1247G>C (p.Ter416Ser) rs763212486 0.00001
NM_000434.4(NEU1):c.238C>A (p.Pro80Thr) rs1762543434 0.00001
NM_000434.4(NEU1):c.239C>T (p.Pro80Leu) rs104893985 0.00001
NM_000434.4(NEU1):c.474T>G (p.Cys158Trp) rs886061289 0.00001
NM_000434.4(NEU1):c.544A>G (p.Ser182Gly) rs398123392 0.00001
NM_000434.4(NEU1):c.615G>A (p.Gln205=) rs781137251 0.00001
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg) rs769765227 0.00001
NM_000434.4(NEU1):c.692T>A (p.Leu231His) rs762400331 0.00001
NM_000434.4(NEU1):c.718T>C (p.Trp240Arg) rs104893978 0.00001
NM_000434.4(NEU1):c.727G>A (p.Gly243Arg) rs104893983 0.00001
NM_000434.4(NEU1):c.779T>A (p.Phe260Tyr) rs104893977 0.00001
NM_000434.4(NEU1):c.826G>A (p.Val276Ile) rs199697301 0.00001
NM_000434.4(NEU1):c.838C>T (p.Arg280Ter) rs945372017 0.00001
NM_000434.4(NEU1):c.888T>C (p.Tyr296=) rs754422982 0.00001
NM_000434.4(NEU1):c.914G>A (p.Arg305His) rs774362886 0.00001
NM_000434.4(NEU1):c.*210T>A rs13118
NM_000434.4(NEU1):c.*644A>G rs1435821332
NM_000434.4(NEU1):c.*69G>A rs1762424496
NM_000434.4(NEU1):c.1004C>A (p.Pro335Gln)
NM_000434.4(NEU1):c.1021+1G>C rs1486980139
NM_000434.4(NEU1):c.1021C>G (p.Arg341Gly)
NM_000434.4(NEU1):c.1021C>T (p.Arg341Ter) rs751458617
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.1208del (p.Ser403fs)
NM_000434.4(NEU1):c.122C>A (p.Ala41Glu) rs886061290
NM_000434.4(NEU1):c.163C>T (p.Gln55Ter)
NM_000434.4(NEU1):c.272T>G (p.Leu91Arg) rs104893972
NM_000434.4(NEU1):c.352+1G>T
NM_000434.4(NEU1):c.353-2A>G rs864309513
NM_000434.4(NEU1):c.45G>A (p.Trp15Ter) rs768711214
NM_000434.4(NEU1):c.539C>G (p.Ser180Cys)
NM_000434.4(NEU1):c.625del (p.Glu209fs) rs1581820081
NM_000434.4(NEU1):c.674G>C (p.Arg225Pro) rs104893980
NM_000434.4(NEU1):c.69G>A (p.Trp23Ter) rs104893986
NM_000434.4(NEU1):c.742G>A (p.Gly248Ser) rs373311653
NM_000434.4(NEU1):c.87G>A (p.Trp29Ter) rs104893984
NM_000434.4(NEU1):c.880C>T (p.Arg294Cys)
NM_000434.4(NEU1):c.886T>C (p.Tyr296His)
NM_000434.4(NEU1):c.887A>G (p.Tyr296Cys) rs2151544199
NM_000434.4(NEU1):c.914G>T (p.Arg305Leu)
NM_000434.4(NEU1):c.946C>T (p.Pro316Ser) rs104893979
NM_000434.4(NEU1):c.947del (p.Pro316fs) rs2151544098
NM_000434.4(NEU1):c.[353-11A>G];[541T>C]

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