ClinVar Miner

List of variants in gene GJC2 studied for Spastic paraplegia

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Gene type:
ClinVar version:
Total variants: 208
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HGVS dbSNP gnomAD frequency
NM_020435.4(GJC2):c.966G>C (p.Ala322=) rs4653910 0.05014
NM_020435.4(GJC2):c.594C>T (p.His198=) rs116557768 0.02483
NM_020435.4(GJC2):c.108C>T (p.Ile36=) rs75469429 0.01203
NM_020435.4(GJC2):c.947C>T (p.Pro316Leu) rs760502262 0.00823
NM_020435.4(GJC2):c.445G>A (p.Gly149Ser) rs577325764 0.00260
NM_020435.4(GJC2):c.575C>G (p.Pro192Arg) rs375318012 0.00116
NM_020435.4(GJC2):c.1193C>T (p.Thr398Ile) rs140942230 0.00109
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) rs200334298 0.00096
NM_020435.4(GJC2):c.147C>T (p.Asp49=) rs139992251 0.00071
NM_020435.4(GJC2):c.528G>A (p.Glu176=) rs201796910 0.00071
NM_020435.4(GJC2):c.556G>T (p.Gly186Cys) rs201277546 0.00061
NM_020435.4(GJC2):c.1090G>A (p.Ala364Thr) rs534573391 0.00058
NM_020435.4(GJC2):c.1123G>A (p.Val375Ile) rs554468010 0.00050
NM_020435.4(GJC2):c.633C>T (p.Arg211=) rs981105825 0.00021
NM_020435.4(GJC2):c.1150C>T (p.Pro384Ser) rs535282333 0.00020
NM_020435.4(GJC2):c.993C>G (p.Pro331=) rs891962078 0.00020
NM_020435.4(GJC2):c.1254_1256del (p.Lys418_Pro419delinsAsn) rs773338759 0.00018
NM_020435.4(GJC2):c.1258A>G (p.Arg420Gly) rs745978138 0.00018
NM_020435.4(GJC2):c.519C>T (p.Gly173=) rs772545343 0.00013
NM_020435.4(GJC2):c.1137G>A (p.Ala379=) rs770713772 0.00011
NM_020435.4(GJC2):c.1082G>T (p.Gly361Val) rs1372028650 0.00010
NM_020435.4(GJC2):c.87G>A (p.Thr29=) rs781315856 0.00010
NM_020435.4(GJC2):c.1057C>T (p.Leu353=) rs750932850 0.00008
NM_020435.4(GJC2):c.302G>T (p.Arg101Leu) rs375288744 0.00006
NM_020435.4(GJC2):c.1019C>T (p.Ala340Val) rs752282539 0.00005
NM_020435.4(GJC2):c.1199C>A (p.Ala400Glu) rs761261049 0.00005
NM_020435.4(GJC2):c.203A>G (p.Tyr68Cys) rs1031720654 0.00005
NM_020435.4(GJC2):c.417C>A (p.Ala139=) rs939165968 0.00005
NM_020435.4(GJC2):c.418G>A (p.Asp140Asn) rs563631405 0.00005
NM_020435.4(GJC2):c.84C>A (p.Leu28=) rs747205319 0.00005
NM_020435.4(GJC2):c.1066C>A (p.Gln356Lys) rs146841026 0.00004
NM_020435.4(GJC2):c.285G>A (p.Leu95=) rs148764840 0.00004
NM_020435.4(GJC2):c.35T>C (p.Leu12Pro) rs765598965 0.00004
NM_020435.4(GJC2):c.486C>T (p.Ala162=) rs1260532478 0.00004
NM_020435.4(GJC2):c.810T>G (p.Val270=) rs760412672 0.00004
NM_020435.4(GJC2):c.291C>T (p.Tyr97=) rs202209462 0.00003
NM_020435.4(GJC2):c.408T>C (p.Pro136=) rs1226490782 0.00003
NM_020435.4(GJC2):c.1158A>G (p.Arg386=) rs763695821 0.00002
NM_020435.4(GJC2):c.216G>T (p.Ala72=) rs747886769 0.00002
NM_020435.4(GJC2):c.217C>A (p.Pro73Thr) rs1330596542 0.00002
NM_020435.4(GJC2):c.295G>A (p.Val99Met) rs754971409 0.00002
NM_020435.4(GJC2):c.550G>A (p.Ala184Thr) rs758277909 0.00002
NM_020435.4(GJC2):c.599G>A (p.Gly200Glu) rs747380067 0.00002
NM_020435.4(GJC2):c.1027G>T (p.Ala343Ser) rs1021631118 0.00001
NM_020435.4(GJC2):c.1028C>T (p.Ala343Val) rs1157071248 0.00001
NM_020435.4(GJC2):c.102C>A (p.Phe34Leu) rs1170317766 0.00001
NM_020435.4(GJC2):c.1038T>A (p.His346Gln) rs559021726 0.00001
NM_020435.4(GJC2):c.1058T>C (p.Leu353Pro) rs905863745 0.00001
NM_020435.4(GJC2):c.1102G>A (p.Asp368Asn) rs779067650 0.00001
NM_020435.4(GJC2):c.1208T>C (p.Val403Ala) rs1310388444 0.00001
NM_020435.4(GJC2):c.1219G>A (p.Gly407Ser) rs758530794 0.00001
NM_020435.4(GJC2):c.1222C>T (p.Arg408Trp) rs918865729 0.00001
NM_020435.4(GJC2):c.1228G>A (p.Gly410Ser) rs780938071 0.00001
NM_020435.4(GJC2):c.1241G>T (p.Arg414Leu) rs775352391 0.00001
NM_020435.4(GJC2):c.127G>A (p.Gly43Ser) rs761544365 0.00001
NM_020435.4(GJC2):c.1293G>C (p.Arg431Ser) rs765571379 0.00001
NM_020435.4(GJC2):c.303C>T (p.Arg101=) rs147954793 0.00001
NM_020435.4(GJC2):c.309C>T (p.Ala103=) rs746640254 0.00001
NM_020435.4(GJC2):c.328C>G (p.Arg110Gly) rs1203025597 0.00001
NM_020435.4(GJC2):c.331C>T (p.Arg111Cys) rs914561394 0.00001
NM_020435.4(GJC2):c.434A>T (p.Glu145Val) rs1250327843 0.00001
NM_020435.4(GJC2):c.448C>G (p.Leu150Val) rs1558119730 0.00001
NM_020435.4(GJC2):c.453C>G (p.Gly151=) rs758276637 0.00001
NM_020435.4(GJC2):c.546_566dup (p.Ala184_Gly190dup) rs758571008 0.00001
NM_020435.4(GJC2):c.561G>A (p.Lys187=) rs1161650965 0.00001
NM_020435.4(GJC2):c.595G>A (p.Asp199Asn) rs772486962 0.00001
NM_020435.4(GJC2):c.697C>G (p.Leu233Val) rs1359291468 0.00001
NM_020435.4(GJC2):c.739C>T (p.Arg247Cys) rs1057523987 0.00001
NM_020435.4(GJC2):c.96G>A (p.Val32=) rs769772220 0.00001
NC_000001.10:g.(?_228337558)_(228346779_?)dup
NM_020435.3(GJC2):c.-167A>G rs587776888
NM_020435.3(GJC2):c.-170A>G rs587777496
NM_020435.4(GJC2):c.-20+1G>C
NM_020435.4(GJC2):c.1013G>A (p.Arg338Gln) rs1011652150
NM_020435.4(GJC2):c.1013G>T (p.Arg338Leu)
NM_020435.4(GJC2):c.1035G>C (p.Ala345=)
NM_020435.4(GJC2):c.1037A>T (p.His346Leu)
NM_020435.4(GJC2):c.1050G>A (p.Leu350=)
NM_020435.4(GJC2):c.1056C>G (p.Asn352Lys)
NM_020435.4(GJC2):c.1084G>A (p.Ala362Thr) rs565574386
NM_020435.4(GJC2):c.1088C>A (p.Ala363Glu) rs1469042630
NM_020435.4(GJC2):c.1092T>A (p.Ala364=)
NM_020435.4(GJC2):c.1093G>A (p.Gly365Arg) rs1434548378
NM_020435.4(GJC2):c.109G>A (p.Val37Met) rs886783252
NM_020435.4(GJC2):c.1105C>T (p.Arg369Trp)
NM_020435.4(GJC2):c.1122C>T (p.Cys374=)
NM_020435.4(GJC2):c.1125C>T (p.Val375=)
NM_020435.4(GJC2):c.1128C>A (p.Gly376=)
NM_020435.4(GJC2):c.1133C>T (p.Pro378Leu)
NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs) rs1571908452
NM_020435.4(GJC2):c.1141_1151del (p.Ser381fs) rs2124967068
NM_020435.4(GJC2):c.1145G>A (p.Arg382Gln) rs2034731056
NM_020435.4(GJC2):c.1149G>C (p.Gly383=)
NM_020435.4(GJC2):c.117G>C (p.Thr39=) rs768549431
NM_020435.4(GJC2):c.1191T>A (p.Ala397=)
NM_020435.4(GJC2):c.1195T>C (p.Ser399Pro)
NM_020435.4(GJC2):c.11T>G (p.Met4Arg) rs2124965914
NM_020435.4(GJC2):c.1229G>A (p.Gly410Asp)
NM_020435.4(GJC2):c.1240C>G (p.Arg414Gly) rs769684659
NM_020435.4(GJC2):c.1249G>C (p.Ala417Pro)
NM_020435.4(GJC2):c.126C>T (p.Gly42=)
NM_020435.4(GJC2):c.1289G>A (p.Ser430Asn)
NM_020435.4(GJC2):c.133G>C (p.Ala45Pro)
NM_020435.4(GJC2):c.139T>C (p.Tyr47His)
NM_020435.4(GJC2):c.141C>G (p.Tyr47Ter) rs1553262438
NM_020435.4(GJC2):c.175C>A (p.Arg59=)
NM_020435.4(GJC2):c.177G>T (p.Arg59=)
NM_020435.4(GJC2):c.195C>A (p.Asn65Lys)
NM_020435.4(GJC2):c.224C>A (p.Ser75Ter)
NM_020435.4(GJC2):c.226C>A (p.His76Asn)
NM_020435.4(GJC2):c.231_233del (p.Arg78del)
NM_020435.4(GJC2):c.251T>C (p.Ile84Thr)
NM_020435.4(GJC2):c.27G>C (p.Leu9=) rs761457231
NM_020435.4(GJC2):c.282C>T (p.Tyr94=)
NM_020435.4(GJC2):c.292G>A (p.Ala98Thr)
NM_020435.4(GJC2):c.29C>T (p.Thr10Met)
NM_020435.4(GJC2):c.30_31delinsAA (p.Thr10_Arg11=)
NM_020435.4(GJC2):c.32G>A (p.Arg11Gln)
NM_020435.4(GJC2):c.338C>T (p.Ala113Val)
NM_020435.4(GJC2):c.343C>T (p.Arg115Cys) rs2124966245
NM_020435.4(GJC2):c.357G>T (p.Gly119=)
NM_020435.4(GJC2):c.363C>G (p.Arg121=)
NM_020435.4(GJC2):c.364C>G (p.Arg122Gly) rs1171061411
NM_020435.4(GJC2):c.368C>A (p.Ala123Glu)
NM_020435.4(GJC2):c.369_370del (p.Arg125fs)
NM_020435.4(GJC2):c.372C>G (p.Pro124=)
NM_020435.4(GJC2):c.373C>A (p.Arg125=)
NM_020435.4(GJC2):c.386C>G (p.Pro129Arg)
NM_020435.4(GJC2):c.393G>A (p.Pro131=)
NM_020435.4(GJC2):c.400G>A (p.Gly134Ser)
NM_020435.4(GJC2):c.407C>G (p.Pro136Arg)
NM_020435.4(GJC2):c.409G>C (p.Glu137Gln) rs2124966310
NM_020435.4(GJC2):c.412C>A (p.Pro138Thr)
NM_020435.4(GJC2):c.417C>G (p.Ala139=) rs939165968
NM_020435.4(GJC2):c.426C>T (p.Gly142=) rs2124966330
NM_020435.4(GJC2):c.42G>A (p.Glu14=) rs2124965941
NM_020435.4(GJC2):c.436_462del (p.Pro146_Glu154del) rs779077705
NM_020435.4(GJC2):c.452G>T (p.Gly151Val)
NM_020435.4(GJC2):c.453C>T (p.Gly151=)
NM_020435.4(GJC2):c.454GAG[5] (p.Glu157_Glu158del) rs746050475
NM_020435.4(GJC2):c.454GAG[6] (p.Glu158del) rs746050475
NM_020435.4(GJC2):c.454GAG[8] (p.Glu158dup) rs746050475
NM_020435.4(GJC2):c.462G>A (p.Glu154=)
NM_020435.4(GJC2):c.466_467delinsAT (p.Glu156Met) rs1571907790
NM_020435.4(GJC2):c.476C>T (p.Thr159Met) rs756868228
NM_020435.4(GJC2):c.484G>A (p.Ala162Thr)
NM_020435.4(GJC2):c.496G>A (p.Gly166Ser)
NM_020435.4(GJC2):c.498C>T (p.Gly166=) rs2124966406
NM_020435.4(GJC2):c.506C>T (p.Ala169Val)
NM_020435.4(GJC2):c.516_530dup (p.Gly173_Ala177dup) rs1159773438
NM_020435.4(GJC2):c.51C>T (p.His17=)
NM_020435.4(GJC2):c.530C>T (p.Ala177Val)
NM_020435.4(GJC2):c.537T>C (p.Thr179=) rs2124966451
NM_020435.4(GJC2):c.539A>G (p.Lys180Arg) rs2124966466
NM_020435.4(GJC2):c.543G>T (p.Ala181=) rs765400775
NM_020435.4(GJC2):c.545_565dup (p.Val182_Ala188dup) rs1553262516
NM_020435.4(GJC2):c.546C>G (p.Val182=)
NM_020435.4(GJC2):c.549C>T (p.Gly183=)
NM_020435.4(GJC2):c.556G>A (p.Gly186Ser)
NM_020435.4(GJC2):c.577G>T (p.Gly193Cys)
NM_020435.4(GJC2):c.584C>T (p.Thr195Ile)
NM_020435.4(GJC2):c.591dup (p.His198fs) rs1455411788
NM_020435.4(GJC2):c.601C>T (p.Arg201Trp)
NM_020435.4(GJC2):c.608G>A (p.Arg203His)
NM_020435.4(GJC2):c.636G>C (p.Val212=)
NM_020435.4(GJC2):c.637T>A (p.Tyr213Asn)
NM_020435.4(GJC2):c.641T>C (p.Val214Ala)
NM_020435.4(GJC2):c.644C>T (p.Ala215Val)
NM_020435.4(GJC2):c.649_651del (p.Leu217del)
NM_020435.4(GJC2):c.653T>C (p.Val218Ala) rs1571908001
NM_020435.4(GJC2):c.658A>G (p.Arg220Gly) rs2124966578
NM_020435.4(GJC2):c.661G>C (p.Ala221Pro) rs767296387
NM_020435.4(GJC2):c.661G>T (p.Ala221Ser) rs767296387
NM_020435.4(GJC2):c.678C>T (p.Ala226=)
NM_020435.4(GJC2):c.69_82dup (p.Leu28fs)
NM_020435.4(GJC2):c.704A>G (p.Tyr235Cys)
NM_020435.4(GJC2):c.716T>C (p.Val239Ala)
NM_020435.4(GJC2):c.721C>T (p.Pro241Ser)
NM_020435.4(GJC2):c.740G>A (p.Arg247His) rs1057523988
NM_020435.4(GJC2):c.740G>C (p.Arg247Pro) rs1057523988
NM_020435.4(GJC2):c.751C>G (p.Pro251Ala)
NM_020435.4(GJC2):c.752C>T (p.Pro251Leu) rs2034720620
NM_020435.4(GJC2):c.765C>G (p.Asp255Glu)
NM_020435.4(GJC2):c.765C>T (p.Asp255=) rs768752998
NM_020435.4(GJC2):c.766T>C (p.Cys256Arg)
NM_020435.4(GJC2):c.782C>G (p.Pro261Arg)
NM_020435.4(GJC2):c.784A>C (p.Thr262Pro)
NM_020435.4(GJC2):c.795G>T (p.Thr265=) rs1485673013
NM_020435.4(GJC2):c.817G>C (p.Val273Leu) rs374172867
NM_020435.4(GJC2):c.830T>C (p.Leu277Pro)
NM_020435.4(GJC2):c.845A>G (p.Asn282Ser) rs1553262560
NM_020435.4(GJC2):c.84C>T (p.Leu28=)
NM_020435.4(GJC2):c.85_86dup (p.Val30fs) rs1558119445
NM_020435.4(GJC2):c.873G>A (p.Leu291=)
NM_020435.4(GJC2):c.897C>T (p.Arg299=)
NM_020435.4(GJC2):c.898G>A (p.Gly300Ser)
NM_020435.4(GJC2):c.902G>C (p.Arg301Pro)
NM_020435.4(GJC2):c.902_910dup (p.Gly303_Pro304insArgArgGly)
NM_020435.4(GJC2):c.914_933dup (p.Ala312fs) rs2124966792
NM_020435.4(GJC2):c.914dup (p.Ala306fs)
NM_020435.4(GJC2):c.915G>A (p.Pro305=) rs2034723914
NM_020435.4(GJC2):c.923C>T (p.Ala308Val)
NM_020435.4(GJC2):c.924CCCCGC[3] (p.Pro313_Arg314insAlaPro)
NM_020435.4(GJC2):c.947C>A (p.Pro316Gln)
NM_020435.4(GJC2):c.960C>T (p.Phe320=)
NM_020435.4(GJC2):c.968C>T (p.Ala323Val)
NM_020435.4(GJC2):c.975T>G (p.Ala325=)
NM_020435.4(GJC2):c.997T>G (p.Tyr333Asp) rs2124966916

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