ClinVar Miner

List of variants in gene GBA2 studied for Spastic paraplegia

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Total variants: 221
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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.33C>T (p.Thr11=) rs34312177 0.06991
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.786+6G>C rs28584995 0.00732
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.815T>C (p.Val272Ala) rs142602400 0.00133
NM_020944.3(GBA2):c.1146G>A (p.Thr382=) rs144060698 0.00126
NM_020944.3(GBA2):c.1420G>A (p.Ala474Thr) rs147443644 0.00124
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.1546A>G (p.Thr516Ala) rs199920123 0.00069
NM_020944.3(GBA2):c.2220C>A (p.Ser740Arg) rs200894732 0.00051
NM_020944.3(GBA2):c.568-19G>C rs370430367 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.1582+14G>A rs375641704 0.00039
NM_020944.3(GBA2):c.217G>A (p.Glu73Lys) rs141800351 0.00038
NM_020944.3(GBA2):c.359+15T>A rs183068847 0.00034
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.1688-13G>C rs779358452 0.00024
NM_020944.3(GBA2):c.786+9C>A rs374309697 0.00023
NM_020944.3(GBA2):c.2367C>T (p.Asn789=) rs143345363 0.00020
NM_020944.3(GBA2):c.964C>T (p.Leu322=) rs150861266 0.00020
NM_020944.3(GBA2):c.2609G>A (p.Arg870Gln) rs199510198 0.00019
NM_020944.3(GBA2):c.1561G>A (p.Gly521Ser) rs371611090 0.00017
NM_020944.3(GBA2):c.806G>C (p.Gly269Ala) rs373010940 0.00017
NM_020944.3(GBA2):c.2197+3G>A rs373784058 0.00016
NM_020944.3(GBA2):c.2478C>T (p.Tyr826=) rs374440648 0.00016
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.2744T>C (p.Phe915Ser) rs143456960 0.00011
NM_020944.3(GBA2):c.29G>A (p.Gly10Glu) rs779487525 0.00011
NM_020944.3(GBA2):c.1093G>A (p.Asp365Asn) rs201219745 0.00010
NM_020944.3(GBA2):c.2778A>C (p.Pro926=) rs777114371 0.00009
NM_020944.3(GBA2):c.360-6C>T rs780264254 0.00009
NM_020944.3(GBA2):c.2563C>T (p.Arg855Cys) rs374335041 0.00008
NM_020944.3(GBA2):c.1995C>A (p.Leu665=) rs139510090 0.00007
NM_020944.3(GBA2):c.2055T>C (p.Ser685=) rs202088139 0.00007
NM_020944.3(GBA2):c.1540C>T (p.Arg514Cys) rs115051365 0.00006
NM_020944.3(GBA2):c.2161C>T (p.Arg721Trp) rs750088946 0.00006
NM_020944.3(GBA2):c.2574G>A (p.Leu858=) rs145866042 0.00006
NM_020944.3(GBA2):c.266G>C (p.Cys89Ser) rs143885818 0.00006
NM_020944.3(GBA2):c.379C>T (p.Arg127Trp) rs377217110 0.00006
NM_020944.3(GBA2):c.2425G>A (p.Val809Ile) rs778985234 0.00005
NM_020944.3(GBA2):c.752G>A (p.Arg251His) rs769204863 0.00005
NM_020944.3(GBA2):c.1301T>A (p.Phe434Tyr) rs372379752 0.00004
NM_020944.3(GBA2):c.1436C>T (p.Ala479Val) rs373844114 0.00004
NM_020944.3(GBA2):c.1767C>T (p.Asn589=) rs551404840 0.00004
NM_020944.3(GBA2):c.1816G>A (p.Val606Ile) rs754032114 0.00004
NM_020944.3(GBA2):c.1988A>T (p.Asp663Val) rs542233713 0.00004
NM_020944.3(GBA2):c.2228G>A (p.Arg743Gln) rs201520272 0.00004
NM_020944.3(GBA2):c.300C>G (p.Pro100=) rs202140393 0.00004
NM_020944.3(GBA2):c.481A>G (p.Thr161Ala) rs778928893 0.00004
NM_020944.3(GBA2):c.644G>A (p.Arg215His) rs748828496 0.00004
NM_020944.3(GBA2):c.746C>T (p.Thr249Ile) rs370954241 0.00004
NM_020944.3(GBA2):c.941G>A (p.Arg314His) rs371758545 0.00004
NM_020944.3(GBA2):c.959G>A (p.Arg320Gln) rs368192956 0.00004
NM_020944.3(GBA2):c.1058T>C (p.Phe353Ser) rs1342067395 0.00003
NM_020944.3(GBA2):c.1814G>A (p.Arg605His) rs563054828 0.00003
NM_020944.3(GBA2):c.2467G>T (p.Gly823Cys) rs1163977326 0.00003
NM_020944.3(GBA2):c.840C>T (p.Asp280=) rs372070908 0.00003
NM_020944.3(GBA2):c.1038G>A (p.Thr346=) rs760958007 0.00002
NM_020944.3(GBA2):c.1269C>T (p.Gly423=) rs779132151 0.00002
NM_020944.3(GBA2):c.2054+6C>T rs148315388 0.00002
NM_020944.3(GBA2):c.388C>T (p.His130Tyr) rs143493395 0.00002
NM_020944.3(GBA2):c.491G>A (p.Arg164His) rs192753525 0.00002
NM_020944.3(GBA2):c.515G>A (p.Arg172His) rs200268523 0.00002
NM_020944.3(GBA2):c.940C>T (p.Arg314Cys) rs1000532303 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.1036A>G (p.Thr346Ala) rs762266200 0.00001
NM_020944.3(GBA2):c.1073C>T (p.Thr358Met) rs372699319 0.00001
NM_020944.3(GBA2):c.1129+10G>T rs764503157 0.00001
NM_020944.3(GBA2):c.1215C>T (p.Arg405=) rs966842217 0.00001
NM_020944.3(GBA2):c.1428C>T (p.Tyr476=) rs781075990 0.00001
NM_020944.3(GBA2):c.1452A>G (p.Leu484=) rs1484976956 0.00001
NM_020944.3(GBA2):c.1582+2T>G rs941656065 0.00001
NM_020944.3(GBA2):c.1723C>T (p.Arg575Trp) rs146085561 0.00001
NM_020944.3(GBA2):c.1724G>A (p.Arg575Gln) rs754998392 0.00001
NM_020944.3(GBA2):c.1784T>C (p.Ile595Thr) rs1035304750 0.00001
NM_020944.3(GBA2):c.1905G>A (p.Thr635=) rs369401526 0.00001
NM_020944.3(GBA2):c.2014G>A (p.Ala672Thr) rs1313074779 0.00001
NM_020944.3(GBA2):c.2027A>G (p.Tyr676Cys) rs1301982587 0.00001
NM_020944.3(GBA2):c.2101C>T (p.Gln701Ter) rs1011987148 0.00001
NM_020944.3(GBA2):c.2121G>A (p.Gly707=) rs746728147 0.00001
NM_020944.3(GBA2):c.2173G>A (p.Ala725Thr) rs1273177779 0.00001
NM_020944.3(GBA2):c.2202del (p.Tyr735fs) rs1448182827 0.00001
NM_020944.3(GBA2):c.2314-8C>T rs774358705 0.00001
NM_020944.3(GBA2):c.2454T>C (p.Asp818=) rs747616868 0.00001
NM_020944.3(GBA2):c.2564G>A (p.Arg855His) rs762268140 0.00001
NM_020944.3(GBA2):c.2699G>A (p.Trp900Ter) rs767031907 0.00001
NM_020944.3(GBA2):c.2702C>G (p.Pro901Arg) rs754527190 0.00001
NM_020944.3(GBA2):c.341A>G (p.His114Arg) rs1247383766 0.00001
NM_020944.3(GBA2):c.480C>T (p.Gly160=) rs1473026472 0.00001
NM_020944.3(GBA2):c.548G>A (p.Arg183Gln) rs202051129 0.00001
NM_020944.3(GBA2):c.704C>G (p.Ala235Gly) rs1387168151 0.00001
NM_020944.3(GBA2):c.1026+10G>C rs763449390
NM_020944.3(GBA2):c.1026G>A (p.Thr342=)
NM_020944.3(GBA2):c.1027-18T>A
NM_020944.3(GBA2):c.1108G>A (p.Gly370Arg) rs1826595849
NM_020944.3(GBA2):c.1111C>T (p.Gln371Ter)
NM_020944.3(GBA2):c.1129+11del
NM_020944.3(GBA2):c.1129+1G>C rs2131972800
NM_020944.3(GBA2):c.1130-14T>A
NM_020944.3(GBA2):c.1130-14T>G
NM_020944.3(GBA2):c.1130-15_1130-14del
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro) rs142607078
NM_020944.3(GBA2):c.1202G>A (p.Arg401Gln)
NM_020944.3(GBA2):c.1213C>T (p.Arg405Cys)
NM_020944.3(GBA2):c.1227A>T (p.Ser409=)
NM_020944.3(GBA2):c.1239C>T (p.Asp413=)
NM_020944.3(GBA2):c.1283+20G>A
NM_020944.3(GBA2):c.1317T>G (p.Asp439Glu)
NM_020944.3(GBA2):c.1332C>T (p.Leu444=) rs1588012030
NM_020944.3(GBA2):c.1345C>A (p.Leu449Met)
NM_020944.3(GBA2):c.1356C>T (p.Tyr452=)
NM_020944.3(GBA2):c.1361_1362del (p.Glu454fs)
NM_020944.3(GBA2):c.1394C>T (p.Pro465Leu)
NM_020944.3(GBA2):c.1399T>C (p.Leu467=)
NM_020944.3(GBA2):c.1410-11T>C
NM_020944.3(GBA2):c.1420G>C (p.Ala474Pro)
NM_020944.3(GBA2):c.145G>T (p.Glu49Ter) rs746551074
NM_020944.3(GBA2):c.1528_1529del (p.Met510fs)
NM_020944.3(GBA2):c.1532_1533del (p.Cys511fs) rs1826516488
NM_020944.3(GBA2):c.1539C>T (p.Leu513=)
NM_020944.3(GBA2):c.1553G>A (p.Arg518Gln)
NM_020944.3(GBA2):c.1554G>T (p.Arg518=)
NM_020944.3(GBA2):c.1560C>T (p.Tyr520=)
NM_020944.3(GBA2):c.1583-14A>G
NM_020944.3(GBA2):c.164_165del (p.Lys55fs) rs1827116262
NM_020944.3(GBA2):c.1651_1654del (p.Trp551fs)
NM_020944.3(GBA2):c.1680T>G (p.Tyr560Ter)
NM_020944.3(GBA2):c.1688-10T>C
NM_020944.3(GBA2):c.1688-7C>T rs1410564153
NM_020944.3(GBA2):c.1703G>A (p.Arg568Lys) rs1451500934
NM_020944.3(GBA2):c.1713G>A (p.Leu571=)
NM_020944.3(GBA2):c.171G>C (p.Thr57=) rs752796065
NM_020944.3(GBA2):c.1731G>C (p.Leu577=) rs1588008179
NM_020944.3(GBA2):c.1761G>A (p.Arg587=)
NM_020944.3(GBA2):c.1768G>A (p.Val590Ile)
NM_020944.3(GBA2):c.1789G>T (p.Asp597Tyr)
NM_020944.3(GBA2):c.1795+12C>T
NM_020944.3(GBA2):c.17C>A (p.Pro6Gln) rs1025071865
NM_020944.3(GBA2):c.1882G>C (p.Val628Leu) rs371925764
NM_020944.3(GBA2):c.1939G>A (p.Val647Met) rs1563957812
NM_020944.3(GBA2):c.1947+15T>C
NM_020944.3(GBA2):c.1947+4A>T rs781668874
NM_020944.3(GBA2):c.19G>A (p.Gly7Arg)
NM_020944.3(GBA2):c.2036G>A (p.Trp679Ter) rs2131951562
NM_020944.3(GBA2):c.2055-12G>A
NM_020944.3(GBA2):c.2055-3C>A
NM_020944.3(GBA2):c.2055-9C>T rs1554665870
NM_020944.3(GBA2):c.2055-9_2055-8insT rs1554665868
NM_020944.3(GBA2):c.2099T>C (p.Val700Ala) rs989227836
NM_020944.3(GBA2):c.2115G>A (p.Leu705=) rs1826376284
NM_020944.3(GBA2):c.2135A>G (p.Gln712Arg)
NM_020944.3(GBA2):c.2159G>T (p.Ser720Ile)
NM_020944.3(GBA2):c.2166C>A (p.Gly722=)
NM_020944.3(GBA2):c.2182A>C (p.Arg728=)
NM_020944.3(GBA2):c.2197+9G>A
NM_020944.3(GBA2):c.2198-6C>T
NM_020944.3(GBA2):c.2229G>C (p.Arg743=)
NM_020944.3(GBA2):c.2240G>A (p.Arg747His)
NM_020944.3(GBA2):c.2274G>A (p.Trp758Ter)
NM_020944.3(GBA2):c.2313+16G>C
NM_020944.3(GBA2):c.2313+7GAG[5] rs200851781
NM_020944.3(GBA2):c.2331T>C (p.His777=) rs777387371
NM_020944.3(GBA2):c.234C>G (p.Gly78=)
NM_020944.3(GBA2):c.2388G>A (p.Gly796=)
NM_020944.3(GBA2):c.2481G>A (p.Gly827=)
NM_020944.3(GBA2):c.2505+12dup rs747824980
NM_020944.3(GBA2):c.2505+14T>C
NM_020944.3(GBA2):c.2506-14A>G
NM_020944.3(GBA2):c.2540G>A (p.Gly847Asp) rs138519801
NM_020944.3(GBA2):c.2562G>A (p.Glu854=)
NM_020944.3(GBA2):c.2598C>T (p.Tyr866=)
NM_020944.3(GBA2):c.260G>T (p.Arg87Leu) rs776095931
NM_020944.3(GBA2):c.2635C>T (p.Arg879Trp)
NM_020944.3(GBA2):c.2636G>A (p.Arg879Gln) rs1588001500
NM_020944.3(GBA2):c.2673A>G (p.Gln891=)
NM_020944.3(GBA2):c.2675A>T (p.Gln892Leu)
NM_020944.3(GBA2):c.2683C>G (p.His895Asp) rs1588001323
NM_020944.3(GBA2):c.2718C>T (p.Gly906=)
NM_020944.3(GBA2):c.2735G>A (p.Gly912Glu)
NM_020944.3(GBA2):c.2777C>T (p.Pro926Leu)
NM_020944.3(GBA2):c.323T>C (p.Leu108Pro)
NM_020944.3(GBA2):c.331A>G (p.Met111Val)
NM_020944.3(GBA2):c.331A>T (p.Met111Leu)
NM_020944.3(GBA2):c.360-19A>G
NM_020944.3(GBA2):c.406C>A (p.Pro136Thr) rs767302670
NM_020944.3(GBA2):c.414C>T (p.Ile138=)
NM_020944.3(GBA2):c.496T>C (p.Trp166Arg)
NM_020944.3(GBA2):c.514C>T (p.Arg172Cys) rs749351473
NM_020944.3(GBA2):c.515G>T (p.Arg172Leu) rs200268523
NM_020944.3(GBA2):c.559G>A (p.Ala187Thr)
NM_020944.3(GBA2):c.568-15A>G
NM_020944.3(GBA2):c.587G>A (p.Arg196Gln)
NM_020944.3(GBA2):c.617T>C (p.Leu206Pro) rs1160145071
NM_020944.3(GBA2):c.629G>A (p.Arg210His)
NM_020944.3(GBA2):c.642C>T (p.Leu214=)
NM_020944.3(GBA2):c.648C>A (p.Ser216Arg) rs781642238
NM_020944.3(GBA2):c.651G>A (p.Trp217Ter) rs1354082523
NM_020944.3(GBA2):c.72G>A (p.Glu24=)
NM_020944.3(GBA2):c.786+13C>T
NM_020944.3(GBA2):c.786+20A>G
NM_020944.3(GBA2):c.786+8C>T
NM_020944.3(GBA2):c.787-10C>A
NM_020944.3(GBA2):c.801T>A (p.Pro267=)
NM_020944.3(GBA2):c.823G>A (p.Val275Met) rs762754270
NM_020944.3(GBA2):c.841G>A (p.Glu281Lys)
NM_020944.3(GBA2):c.867C>G (p.Phe289Leu) rs147741018
NM_020944.3(GBA2):c.873G>A (p.Met291Ile)
NM_020944.3(GBA2):c.909G>T (p.Gly303=)
NM_020944.3(GBA2):c.90C>T (p.Cys30=)
NM_020944.3(GBA2):c.958C>T (p.Arg320Trp)
NM_020944.3(GBA2):c.969C>T (p.Leu323=)

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