ClinVar Miner

List of variants in gene NEU1 studied for Sialidosis, type II

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Total variants: 31
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HGVS dbSNP
NEU1, 1-BP DEL, 1337C
NM_000434.3(NEU1):c.-49C>T rs374172739
NM_000434.3(NEU1):c.-76C>G rs566696697
NM_000434.4(NEU1):c.*210T>A rs13118
NM_000434.4(NEU1):c.*269C>T rs886061288
NM_000434.4(NEU1):c.*445T>G rs113824527
NM_000434.4(NEU1):c.*454A>G rs886061287
NM_000434.4(NEU1):c.*524C>T rs886061286
NM_000434.4(NEU1):c.*581G>A rs551222239
NM_000434.4(NEU1):c.*596G>T rs749671704
NM_000434.4(NEU1):c.-13G>A rs886061291
NM_000434.4(NEU1):c.-40T>G rs41267082
NM_000434.4(NEU1):c.1021+1G>C
NM_000434.4(NEU1):c.1088T>C (p.Leu363Pro) rs193922915
NM_000434.4(NEU1):c.1107C>A (p.Gly369=) rs150864071
NM_000434.4(NEU1):c.122C>A (p.Ala41Glu) rs886061290
NM_000434.4(NEU1):c.239C>T (p.Pro80Leu) rs104893985
NM_000434.4(NEU1):c.263G>C (p.Gly88Ala) rs34712643
NM_000434.4(NEU1):c.272T>G (p.Leu91Arg) rs104893972
NM_000434.4(NEU1):c.45G>A (p.Trp15Ter) rs768711214
NM_000434.4(NEU1):c.474T>G (p.Cys158Trp) rs886061289
NM_000434.4(NEU1):c.486C>T (p.Ala162=) rs115588976
NM_000434.4(NEU1):c.625del (p.Glu209fs)
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.718T>C (p.Trp240Arg) rs104893978
NM_000434.4(NEU1):c.779T>A (p.Phe260Tyr) rs104893977
NM_000434.4(NEU1):c.799-4T>C rs759065536
NM_000434.4(NEU1):c.87G>A (p.Trp29Ter) rs104893984
NM_000434.4(NEU1):c.888T>C (p.Tyr296=) rs754422982
NM_000434.4(NEU1):c.893C>T (p.Ala298Val) rs104893981

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