ClinVar Miner

List of variants in gene NEU1 reported as uncertain significance for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
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.-42T>C rs373597058 0.00025
NM_000434.4(NEU1):c.*524C>T rs886061286 0.00018
NM_000434.4(NEU1):c.*454A>G rs886061287 0.00016
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.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_000434.3(NEU1):c.-49C>T rs374172739 0.00001
NM_000434.4(NEU1):c.-13G>A rs886061291 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.474T>G (p.Cys158Trp) rs886061289 0.00001
NM_000434.4(NEU1):c.826G>A (p.Val276Ile) rs199697301 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.*644A>G rs1435821332
NM_000434.4(NEU1):c.*69G>A rs1762424496
NM_000434.4(NEU1):c.122C>A (p.Ala41Glu) rs886061290
NM_000434.4(NEU1):c.45G>A (p.Trp15Ter) rs768711214
NM_000434.4(NEU1):c.539C>G (p.Ser180Cys)
NM_000434.4(NEU1):c.742G>A (p.Gly248Ser) rs373311653

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