ClinVar Miner

List of variants in gene TECPR2 reported as uncertain significance for hereditary spastic paraplegia 49

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 223
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HGVS dbSNP gnomAD frequency
NM_014844.5(TECPR2):c.623C>T (p.Thr208Ile) rs144870163 0.00140
NM_014844.5(TECPR2):c.952-4A>T rs1361744469 0.00085
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys) rs144915346 0.00065
NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr) rs77170608 0.00051
NM_014844.5(TECPR2):c.3643G>A (p.Ala1215Thr) rs114136452 0.00048
NM_014844.5(TECPR2):c.2330G>A (p.Ser777Asn) rs144849839 0.00038
NM_014844.5(TECPR2):c.3282G>A (p.Lys1094=) rs199835341 0.00036
NM_014844.5(TECPR2):c.516A>G (p.Pro172=) rs142385149 0.00036
NM_014844.5(TECPR2):c.1546G>A (p.Val516Met) rs141697267 0.00032
NM_014844.5(TECPR2):c.3386C>A (p.Ser1129Tyr) rs139247564 0.00032
NM_014844.5(TECPR2):c.2021C>T (p.Pro674Leu) rs149022686 0.00029
NM_014844.5(TECPR2):c.2323G>A (p.Gly775Arg) rs138725425 0.00029
NM_014844.5(TECPR2):c.978C>T (p.Ser326=) rs142082203 0.00026
NM_014844.5(TECPR2):c.3108G>A (p.Gln1036=) rs140351132 0.00019
NM_014844.5(TECPR2):c.2807C>T (p.Pro936Leu) rs373173535 0.00017
NM_014844.5(TECPR2):c.3548C>T (p.Ala1183Val) rs146196522 0.00017
NM_014844.5(TECPR2):c.2966C>T (p.Thr989Met) rs140963558 0.00014
NM_014844.5(TECPR2):c.622A>G (p.Thr208Ala) rs536338550 0.00014
NM_014844.5(TECPR2):c.3466G>A (p.Ala1156Thr) rs200844941 0.00013
NM_014844.5(TECPR2):c.3602C>T (p.Thr1201Met) rs377706262 0.00013
NM_014844.5(TECPR2):c.53A>G (p.Tyr18Cys) rs150645913 0.00013
NM_014844.5(TECPR2):c.3797G>T (p.Gly1266Val) rs201704673 0.00012
NM_014844.5(TECPR2):c.3790-8G>A rs772801372 0.00011
NM_014844.5(TECPR2):c.4161G>A (p.Ser1387=) rs150885756 0.00011
NM_014844.5(TECPR2):c.818G>A (p.Arg273His) rs144069125 0.00011
NM_014844.5(TECPR2):c.846C>T (p.Cys282=) rs201691545 0.00011
NM_014844.5(TECPR2):c.2900C>T (p.Pro967Leu) rs140434256 0.00010
NM_014844.5(TECPR2):c.3990C>T (p.Asn1330=) rs757779692 0.00010
NM_014844.5(TECPR2):c.1784C>T (p.Thr595Met) rs150893437 0.00009
NM_014844.5(TECPR2):c.2234G>A (p.Arg745Gln) rs374972168 0.00009
NM_014844.5(TECPR2):c.67A>G (p.Ile23Val) rs776524033 0.00009
NM_014844.5(TECPR2):c.1255G>A (p.Gly419Ser) rs779431365 0.00007
NM_014844.5(TECPR2):c.3991G>A (p.Gly1331Arg) rs143705801 0.00007
NM_014844.5(TECPR2):c.1316C>T (p.Pro439Leu) rs754024398 0.00006
NM_014844.5(TECPR2):c.1471G>A (p.Glu491Lys) rs751957510 0.00006
NM_014844.5(TECPR2):c.1792G>A (p.Gly598Arg) rs772792595 0.00006
NM_014844.5(TECPR2):c.2761G>A (p.Val921Met) rs760730551 0.00006
NM_014844.5(TECPR2):c.1652A>G (p.Glu551Gly) rs778600439 0.00005
NM_014844.5(TECPR2):c.2394+3A>G rs776681603 0.00005
NM_014844.5(TECPR2):c.4006C>T (p.Arg1336Trp) rs778817517 0.00005
NM_014844.5(TECPR2):c.1261G>A (p.Gly421Arg) rs141146184 0.00004
NM_014844.5(TECPR2):c.1327A>G (p.Arg443Gly) rs199977652 0.00004
NM_014844.5(TECPR2):c.1335C>T (p.Asn445=) rs778115838 0.00004
NM_014844.5(TECPR2):c.3507C>T (p.Ala1169=) rs775448295 0.00004
NM_014844.5(TECPR2):c.3521A>G (p.Tyr1174Cys) rs767911807 0.00004
NM_014844.5(TECPR2):c.3580A>G (p.Thr1194Ala) rs746763770 0.00004
NM_014844.5(TECPR2):c.3979C>T (p.Arg1327Cys) rs763261549 0.00004
NM_014844.5(TECPR2):c.413A>G (p.Asn138Ser) rs750512288 0.00004
NM_014844.5(TECPR2):c.4189G>A (p.Ala1397Thr) rs376123886 0.00004
NM_014844.5(TECPR2):c.632G>A (p.Arg211Lys) rs201081739 0.00004
NM_014844.5(TECPR2):c.669A>C (p.Pro223=) rs750443286 0.00004
NM_014844.5(TECPR2):c.715G>A (p.Gly239Arg) rs750922939 0.00004
NM_014844.5(TECPR2):c.2967G>A (p.Thr989=) rs1345090533 0.00003
NM_014844.5(TECPR2):c.351T>G (p.Leu117=) rs771585977 0.00003
NM_014844.5(TECPR2):c.95G>A (p.Arg32His) rs767622790 0.00003
NM_014844.5(TECPR2):c.999G>A (p.Ser333=) rs369972265 0.00003
NM_014844.5(TECPR2):c.1270C>T (p.Pro424Ser) rs770753468 0.00002
NM_014844.5(TECPR2):c.1334A>G (p.Asn445Ser) rs758980397 0.00002
NM_014844.5(TECPR2):c.1372G>A (p.Val458Met) rs745458532 0.00002
NM_014844.5(TECPR2):c.1788A>G (p.Gly596=) rs1330988861 0.00002
NM_014844.5(TECPR2):c.1825A>G (p.Asn609Asp) rs1442486583 0.00002
NM_014844.5(TECPR2):c.227C>T (p.Thr76Met) rs745399936 0.00002
NM_014844.5(TECPR2):c.2875C>T (p.Arg959Trp) rs762185786 0.00002
NM_014844.5(TECPR2):c.3515G>A (p.Arg1172His) rs148647252 0.00002
NM_014844.5(TECPR2):c.4060G>A (p.Gly1354Ser) rs755603975 0.00002
NM_014844.5(TECPR2):c.1129G>A (p.Val377Met) rs527904656 0.00001
NM_014844.5(TECPR2):c.1204G>A (p.Val402Met) rs201302142 0.00001
NM_014844.5(TECPR2):c.1213G>A (p.Glu405Lys) rs148556964 0.00001
NM_014844.5(TECPR2):c.1235C>T (p.Ser412Leu) rs367895391 0.00001
NM_014844.5(TECPR2):c.1244C>A (p.Ser415Tyr) rs1239046327 0.00001
NM_014844.5(TECPR2):c.142A>G (p.Ile48Val) rs774552033 0.00001
NM_014844.5(TECPR2):c.1643A>G (p.Asn548Ser) rs904496072 0.00001
NM_014844.5(TECPR2):c.167T>C (p.Met56Thr) rs755600315 0.00001
NM_014844.5(TECPR2):c.173A>T (p.Tyr58Phe) rs752289754 0.00001
NM_014844.5(TECPR2):c.1810G>A (p.Ala604Thr) rs958569960 0.00001
NM_014844.5(TECPR2):c.1811C>T (p.Ala604Val) rs1060502180 0.00001
NM_014844.5(TECPR2):c.1861T>G (p.Ser621Ala) rs917201729 0.00001
NM_014844.5(TECPR2):c.2281G>A (p.Gly761Arg) rs985650252 0.00001
NM_014844.5(TECPR2):c.2414G>A (p.Gly805Asp) rs201418942 0.00001
NM_014844.5(TECPR2):c.2453T>C (p.Val818Ala) rs766994977 0.00001
NM_014844.5(TECPR2):c.2578+5G>A rs1247861941 0.00001
NM_014844.5(TECPR2):c.2675C>T (p.Pro892Leu) rs762680033 0.00001
NM_014844.5(TECPR2):c.2700C>T (p.Ser900=) rs545614481 0.00001
NM_014844.5(TECPR2):c.2708C>T (p.Thr903Met) rs752912949 0.00001
NM_014844.5(TECPR2):c.2876G>A (p.Arg959Gln) rs763118922 0.00001
NM_014844.5(TECPR2):c.2971G>A (p.Gly991Arg) rs769632840 0.00001
NM_014844.5(TECPR2):c.3104A>G (p.Asp1035Gly) rs1060502181 0.00001
NM_014844.5(TECPR2):c.3172G>A (p.Val1058Ile) rs149704865 0.00001
NM_014844.5(TECPR2):c.3182T>C (p.Val1061Ala) rs1567347217 0.00001
NM_014844.5(TECPR2):c.3196C>T (p.Arg1066Cys) rs776056002 0.00001
NM_014844.5(TECPR2):c.3197G>A (p.Arg1066His) rs868392319 0.00001
NM_014844.5(TECPR2):c.3236G>A (p.Ser1079Asn) rs765999317 0.00001
NM_014844.5(TECPR2):c.3399G>A (p.Thr1133=) rs765318084 0.00001
NM_014844.5(TECPR2):c.3475C>T (p.Arg1159Trp) rs202087410 0.00001
NM_014844.5(TECPR2):c.3514C>G (p.Arg1172Gly) rs762957508 0.00001
NM_014844.5(TECPR2):c.3590A>G (p.Lys1197Arg) rs1230456153 0.00001
NM_014844.5(TECPR2):c.3803G>A (p.Ser1268Asn) rs1891298626 0.00001
NM_014844.5(TECPR2):c.3806T>C (p.Leu1269Ser) rs750718382 0.00001
NM_014844.5(TECPR2):c.4085C>T (p.Thr1362Ile) rs766050891 0.00001
NM_014844.5(TECPR2):c.541A>G (p.Ser181Gly) rs200469835 0.00001
NM_014844.5(TECPR2):c.879A>G (p.Ser293=) rs770891190 0.00001
NM_014844.5(TECPR2):c.952G>A (p.Ala318Thr) rs1407792035 0.00001
NC_000014.8:g.(?_102843059)_(102843297_?)dup
NC_000014.8:g.(?_102843059)_(102964594_?)dup
NC_000014.8:g.(?_102963296)_(102964594_?)del
NC_000014.8:g.(?_102963296)_(102964594_?)dup
NM_014844.5(TECPR2):c.*7C>G rs778208284
NM_014844.5(TECPR2):c.103G>A (p.Val35Met)
NM_014844.5(TECPR2):c.1176G>T (p.Arg392Ser) rs771574785
NM_014844.5(TECPR2):c.1216C>T (p.Pro406Ser)
NM_014844.5(TECPR2):c.1252A>G (p.Ser418Gly)
NM_014844.5(TECPR2):c.1301G>A (p.Gly434Asp)
NM_014844.5(TECPR2):c.1314G>C (p.Gln438His) rs1889509080
NM_014844.5(TECPR2):c.1342A>G (p.Ser448Gly) rs1889511402
NM_014844.5(TECPR2):c.1346C>T (p.Ser449Leu)
NM_014844.5(TECPR2):c.1397AGA[4] (p.Lys470_Lys471del) rs572609303
NM_014844.5(TECPR2):c.1397AGA[5] (p.Lys471del) rs572609303
NM_014844.5(TECPR2):c.1415C>T (p.Thr472Ile) rs370462085
NM_014844.5(TECPR2):c.1492C>A (p.Gln498Lys) rs1018872661
NM_014844.5(TECPR2):c.1586G>C (p.Ser529Thr) rs2139730562
NM_014844.5(TECPR2):c.158G>A (p.Ser53Asn) rs750590086
NM_014844.5(TECPR2):c.1606G>A (p.Gly536Ser) rs186595127
NM_014844.5(TECPR2):c.1606G>T (p.Gly536Cys)
NM_014844.5(TECPR2):c.1610T>C (p.Val537Ala)
NM_014844.5(TECPR2):c.1651G>A (p.Glu551Lys)
NM_014844.5(TECPR2):c.1666A>G (p.Met556Val) rs201791953
NM_014844.5(TECPR2):c.1715A>G (p.His572Arg)
NM_014844.5(TECPR2):c.1715A>T (p.His572Leu)
NM_014844.5(TECPR2):c.173A>G (p.Tyr58Cys)
NM_014844.5(TECPR2):c.1871C>T (p.Ala624Val)
NM_014844.5(TECPR2):c.1897A>G (p.Ile633Val)
NM_014844.5(TECPR2):c.1923_1926delinsT (p.Glu641_Val642delinsAsp)
NM_014844.5(TECPR2):c.1928C>T (p.Pro643Leu) rs1307864537
NM_014844.5(TECPR2):c.1945A>G (p.Thr649Ala)
NM_014844.5(TECPR2):c.1978G>A (p.Ala660Thr) rs1567340028
NM_014844.5(TECPR2):c.2007TGA[1] (p.Asp670del) rs1340395562
NM_014844.5(TECPR2):c.2022C>G (p.Pro674=) rs770334939
NM_014844.5(TECPR2):c.2101G>C (p.Val701Leu)
NM_014844.5(TECPR2):c.2124G>C (p.Gln708His) rs896270875
NM_014844.5(TECPR2):c.2147G>A (p.Arg716His)
NM_014844.5(TECPR2):c.2249C>T (p.Thr750Met)
NM_014844.5(TECPR2):c.2273A>G (p.Tyr758Cys)
NM_014844.5(TECPR2):c.2283_2284delinsTT (p.Leu762Phe)
NM_014844.5(TECPR2):c.2306C>T (p.Thr769Met)
NM_014844.5(TECPR2):c.2312T>A (p.Val771Glu) rs1555451565
NM_014844.5(TECPR2):c.2362G>T (p.Ala788Ser) rs551027659
NM_014844.5(TECPR2):c.2371G>A (p.Ala791Thr)
NM_014844.5(TECPR2):c.2374G>C (p.Gly792Arg)
NM_014844.5(TECPR2):c.2394+4T>C rs1567340516
NM_014844.5(TECPR2):c.2434G>A (p.Gly812Ser)
NM_014844.5(TECPR2):c.2599G>A (p.Glu867Lys)
NM_014844.5(TECPR2):c.2614C>T (p.Arg872Trp)
NM_014844.5(TECPR2):c.2617G>T (p.Ala873Ser) rs755300630
NM_014844.5(TECPR2):c.2630G>A (p.Gly877Glu)
NM_014844.5(TECPR2):c.2683G>A (p.Val895Met) rs764000123
NM_014844.5(TECPR2):c.2752+6C>T
NM_014844.5(TECPR2):c.2785G>A (p.Val929Ile) rs766411435
NM_014844.5(TECPR2):c.2834A>G (p.Asn945Ser) rs1889895853
NM_014844.5(TECPR2):c.2837T>C (p.Val946Ala) rs1889895936
NM_014844.5(TECPR2):c.2846C>A (p.Ala949Glu)
NM_014844.5(TECPR2):c.2854G>C (p.Glu952Gln)
NM_014844.5(TECPR2):c.2873A>T (p.Tyr958Phe)
NM_014844.5(TECPR2):c.2934C>T (p.Ser978=)
NM_014844.5(TECPR2):c.2953C>A (p.Pro985Thr) rs374430400
NM_014844.5(TECPR2):c.2953C>T (p.Pro985Ser)
NM_014844.5(TECPR2):c.298A>G (p.Arg100Gly)
NM_014844.5(TECPR2):c.2998G>T (p.Asp1000Tyr) rs1889962674
NM_014844.5(TECPR2):c.3005A>G (p.His1002Arg)
NM_014844.5(TECPR2):c.3028G>A (p.Gly1010Ser)
NM_014844.5(TECPR2):c.3061G>A (p.Asp1021Asn)
NM_014844.5(TECPR2):c.3073C>A (p.Gln1025Lys)
NM_014844.5(TECPR2):c.3086C>T (p.Thr1029Met)
NM_014844.5(TECPR2):c.3125C>T (p.Thr1042Met)
NM_014844.5(TECPR2):c.3139A>C (p.Thr1047Pro) rs1890088141
NM_014844.5(TECPR2):c.3230A>C (p.Gln1077Pro)
NM_014844.5(TECPR2):c.3259G>A (p.Gly1087Ser)
NM_014844.5(TECPR2):c.3275C>G (p.Ser1092Trp)
NM_014844.5(TECPR2):c.3298G>A (p.Ala1100Thr)
NM_014844.5(TECPR2):c.3398C>T (p.Thr1133Met)
NM_014844.5(TECPR2):c.3418T>G (p.Trp1140Gly) rs1890167079
NM_014844.5(TECPR2):c.3451G>A (p.Val1151Ile)
NM_014844.5(TECPR2):c.3456C>T (p.Ser1152=) rs199827410
NM_014844.5(TECPR2):c.3473C>T (p.Ser1158Leu)
NM_014844.5(TECPR2):c.3474G>T (p.Ser1158=) rs376646346
NM_014844.5(TECPR2):c.3502G>A (p.Glu1168Lys)
NM_014844.5(TECPR2):c.3526G>A (p.Ala1176Thr)
NM_014844.5(TECPR2):c.3581C>T (p.Thr1194Met)
NM_014844.5(TECPR2):c.3704G>A (p.Gly1235Asp) rs1890527067
NM_014844.5(TECPR2):c.3709G>A (p.Val1237Ile)
NM_014844.5(TECPR2):c.3784G>A (p.Val1262Ile) rs2139771757
NM_014844.5(TECPR2):c.3787C>A (p.Gln1263Lys)
NM_014844.5(TECPR2):c.3791C>A (p.Pro1264His) rs760298134
NM_014844.5(TECPR2):c.3793G>A (p.Ala1265Thr) rs140840591
NM_014844.5(TECPR2):c.3793G>T (p.Ala1265Ser) rs140840591
NM_014844.5(TECPR2):c.386G>A (p.Ser129Asn)
NM_014844.5(TECPR2):c.3953C>T (p.Ala1318Val)
NM_014844.5(TECPR2):c.4003C>T (p.Arg1335Trp)
NM_014844.5(TECPR2):c.4007G>A (p.Arg1336Gln)
NM_014844.5(TECPR2):c.4029C>A (p.Asn1343Lys)
NM_014844.5(TECPR2):c.4030C>G (p.Pro1344Ala) rs763133422
NM_014844.5(TECPR2):c.4033G>C (p.Ala1345Pro) rs77170608
NM_014844.5(TECPR2):c.4082-3C>T
NM_014844.5(TECPR2):c.408C>A (p.Ser136Arg)
NM_014844.5(TECPR2):c.4120G>A (p.Gly1374Ser)
NM_014844.5(TECPR2):c.4135C>T (p.Arg1379Trp)
NM_014844.5(TECPR2):c.4165G>A (p.Gly1389Ser)
NM_014844.5(TECPR2):c.4219G>A (p.Glu1407Lys)
NM_014844.5(TECPR2):c.423A>G (p.Lys141=) rs756199626
NM_014844.5(TECPR2):c.480G>A (p.Gln160=)
NM_014844.5(TECPR2):c.523A>G (p.Ile175Val) rs914763987
NM_014844.5(TECPR2):c.524T>C (p.Ile175Thr)
NM_014844.5(TECPR2):c.55CTC[1] (p.Leu20del) rs762675550
NM_014844.5(TECPR2):c.566C>T (p.Thr189Ile) rs1888974156
NM_014844.5(TECPR2):c.716G>T (p.Gly239Val)
NM_014844.5(TECPR2):c.721C>T (p.Arg241Trp)
NM_014844.5(TECPR2):c.726A>T (p.Leu242=) rs748794723
NM_014844.5(TECPR2):c.783T>G (p.Phe261Leu)
NM_014844.5(TECPR2):c.787G>A (p.Gly263Arg)
NM_014844.5(TECPR2):c.874G>A (p.Val292Ile)
NM_014844.5(TECPR2):c.916G>A (p.Glu306Lys)
NM_014844.5(TECPR2):c.937G>C (p.Asp313His)
NM_014844.5(TECPR2):c.952-3C>T rs1484530326
NM_014844.5(TECPR2):c.976T>C (p.Ser326Pro) rs1889383260

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