ClinVar Miner

List of variants in gene GBA2 studied for hereditary spastic paraplegia

Included ClinVar conditions (133):
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Gene type:
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Total variants: 56
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HGVS dbSNP gnomAD frequency
NM_020944.3(GBA2):c.1688-10_1688-9insG rs3833700 0.68762
NM_020944.3(GBA2):c.1795+7G>A rs73438754 0.03415
NM_020944.3(GBA2):c.1267G>A (p.Gly423Ser) rs79325774 0.01424
NM_020944.3(GBA2):c.946G>A (p.Gly316Arg) rs113785628 0.00736
NM_020944.3(GBA2):c.1037C>T (p.Thr346Met) rs34353044 0.00613
NM_020944.3(GBA2):c.326G>A (p.Ser109Asn) rs140988229 0.00197
NM_020944.3(GBA2):c.1552C>T (p.Arg518Trp) rs142883889 0.00081
NM_020944.3(GBA2):c.1358C>A (p.Ala453Glu) rs78197987 0.00075
NM_020944.3(GBA2):c.2220C>A (p.Ser740Arg) rs200894732 0.00051
NM_020944.3(GBA2):c.1688-8T>C rs754147042 0.00047
NM_020944.3(GBA2):c.2201G>A (p.Arg734His) rs142621039 0.00042
NM_020944.3(GBA2):c.1395G>A (p.Pro465=) rs149501146 0.00027
NM_020944.3(GBA2):c.1357G>A (p.Ala453Thr) rs145802357 0.00024
NM_020944.3(GBA2):c.786+9C>A rs374309697 0.00023
NM_020944.3(GBA2):c.964C>T (p.Leu322=) rs150861266 0.00020
NM_020944.3(GBA2):c.1561G>A (p.Gly521Ser) rs371611090 0.00017
NM_020944.3(GBA2):c.659G>A (p.Gly220Asp) rs145436860 0.00015
NM_020944.3(GBA2):c.1848T>C (p.Asp616=) rs766509602 0.00014
NM_020944.3(GBA2):c.1495G>A (p.Glu499Lys) rs35818148 0.00013
NM_020944.3(GBA2):c.266G>C (p.Cys89Ser) rs143885818 0.00006
NM_020944.3(GBA2):c.1A>T (p.Met1Leu) rs770566458 0.00004
NM_020944.3(GBA2):c.300C>G (p.Pro100=) rs202140393 0.00004
NM_020944.3(GBA2):c.746C>T (p.Thr249Ile) rs370954241 0.00004
NM_020944.3(GBA2):c.959G>A (p.Arg320Gln) rs368192956 0.00004
NM_020944.3(GBA2):c.1888C>T (p.Arg630Trp) rs398123012 0.00003
NM_020944.3(GBA2):c.2548C>T (p.Arg850Cys) rs752274637 0.00002
NM_020944.3(GBA2):c.1018C>T (p.Arg340Ter) rs398123014 0.00001
NM_020944.3(GBA2):c.1030G>C (p.Ala344Pro) rs750984776 0.00001
NM_020944.3(GBA2):c.1285C>T (p.Arg429Trp) rs748661440 0.00001
NM_020944.3(GBA2):c.1428C>T (p.Tyr476=) rs781075990 0.00001
NM_020944.3(GBA2):c.1582+2T>G rs941656065 0.00001
NM_020944.3(GBA2):c.2202del (p.Tyr735fs) rs1448182827 0.00001
NM_020944.3(GBA2):c.2699G>A (p.Trp900Ter) rs767031907 0.00001
NM_020944.3(GBA2):c.341A>G (p.His114Arg) rs1247383766 0.00001
NM_020944.3(GBA2):c.490C>T (p.Arg164Cys) rs867545153 0.00001
NM_020944.3(GBA2):c.700C>T (p.Arg234Ter) rs398123013 0.00001
NM_020944.3(GBA2):c.704C>G (p.Ala235Gly) rs1387168151 0.00001
NM_020944.3(GBA2):c.-162G>A rs2132025854
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro) rs142607078
NM_020944.3(GBA2):c.134G>C (p.Cys45Ser) rs776346547
NM_020944.3(GBA2):c.1471_1474dup (p.Thr492fs) rs1588010939
NM_020944.3(GBA2):c.1507C>T (p.Pro503Ser)
NM_020944.3(GBA2):c.1602C>A (p.Tyr534Ter)
NM_020944.3(GBA2):c.1720C>T (p.Arg574Ter)
NM_020944.3(GBA2):c.1780G>C (p.Asp594His) rs398123064
NM_020944.3(GBA2):c.2166_2176del (p.Gly722_Gln723insTer) rs2131947494
NM_020944.3(GBA2):c.2248_2249del (p.Met750fs) rs2131945469
NM_020944.3(GBA2):c.2506-2A>G
NM_020944.3(GBA2):c.2608C>T (p.Arg870Ter)
NM_020944.3(GBA2):c.2617C>T (p.Arg873Cys)
NM_020944.3(GBA2):c.2618G>A (p.Arg873His) rs398123015
NM_020944.3(GBA2):c.363C>A (p.Tyr121Ter) rs1588023668
NM_020944.3(GBA2):c.451+1G>A rs769002624
NM_020944.3(GBA2):c.518G>A (p.Trp173Ter) rs1588022768
NM_020944.3(GBA2):c.715dup (p.Tyr239fs)
NM_020944.3(GBA2):c.892G>A (p.Gly298Arg)

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