ClinVar Miner

List of variants studied for hereditary spastic paraplegia 49 by Natera, Inc.

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 190
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HGVS dbSNP gnomAD frequency
NM_014844.5(TECPR2):c.958G>A (p.Val320Ile) rs1309353 0.93726
NM_014844.5(TECPR2):c.2047A>G (p.Ile683Val) rs10149146 0.25663
NM_014844.5(TECPR2):c.1869G>A (p.Gly623=) rs45605932 0.12774
NM_014844.5(TECPR2):c.2760C>T (p.Ser920=) rs17100923 0.10438
NM_014844.5(TECPR2):c.1315C>T (p.Pro439Ser) rs2273906 0.04157
NM_014844.5(TECPR2):c.1156G>A (p.Ala386Thr) rs11845676 0.04113
NM_014844.5(TECPR2):c.2050C>G (p.Leu684Val) rs45467297 0.03285
NM_014844.5(TECPR2):c.-2C>T rs17100874 0.02432
NM_014844.5(TECPR2):c.2941C>A (p.Gln981Lys) rs62000389 0.01415
NM_014844.5(TECPR2):c.3275C>T (p.Ser1092Leu) rs72700618 0.00388
NM_014844.5(TECPR2):c.1789C>T (p.Leu597Phe) rs116185336 0.00363
NM_014844.5(TECPR2):c.2939G>C (p.Arg980Thr) rs144147210 0.00331
NM_014844.5(TECPR2):c.1470C>T (p.Ser490=) rs149584733 0.00245
NM_014844.5(TECPR2):c.1644T>G (p.Asn548Lys) rs72700613 0.00114
NM_014844.5(TECPR2):c.762G>A (p.Thr254=) rs138070234 0.00114
NM_014844.5(TECPR2):c.952-4A>T rs1361744469 0.00085
NM_014844.5(TECPR2):c.1605C>T (p.Asn535=) rs145715326 0.00080
NM_014844.5(TECPR2):c.1981G>A (p.Glu661Lys) rs144915346 0.00065
NM_014844.5(TECPR2):c.1833A>G (p.Thr611=) rs147716085 0.00063
NM_014844.5(TECPR2):c.606T>C (p.Ser202=) rs140791062 0.00061
NM_014844.5(TECPR2):c.754C>A (p.Gln252Lys) rs147010113 0.00061
NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr) rs77170608 0.00051
NM_014844.5(TECPR2):c.3465C>A (p.Ser1155Arg) rs75004775 0.00041
NM_014844.5(TECPR2):c.1140G>A (p.Ala380=) rs139710994 0.00038
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.2847G>A (p.Ala949=) rs145452704 0.00035
NM_014844.5(TECPR2):c.1546G>A (p.Val516Met) rs141697267 0.00032
NM_014844.5(TECPR2):c.3294C>T (p.His1098=) rs144141409 0.00031
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.2449G>A (p.Val817Met) rs199738023 0.00026
NM_014844.5(TECPR2):c.978C>T (p.Ser326=) rs142082203 0.00026
NM_014844.5(TECPR2):c.1677T>C (p.Ser559=) rs375017422 0.00024
NM_014844.5(TECPR2):c.3831C>T (p.Asn1277=) rs200792120 0.00024
NM_014844.5(TECPR2):c.672A>G (p.Gly224=) rs138689342 0.00024
NM_014844.5(TECPR2):c.3246G>C (p.Gly1082=) rs373876214 0.00023
NM_014844.5(TECPR2):c.4035C>T (p.Ala1345=) rs376614211 0.00023
NM_014844.5(TECPR2):c.2280C>T (p.His760=) rs61744796 0.00021
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.1248C>T (p.Thr416=) rs144313788 0.00013
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.3882C>T (p.Thr1294=) rs145556234 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.-3G>A rs190179991 0.00010
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.1173G>A (p.Thr391=) rs747637703 0.00009
NM_014844.5(TECPR2):c.1477C>T (p.Pro493Ser) rs150165045 0.00009
NM_014844.5(TECPR2):c.1926C>T (p.Val642=) rs770279871 0.00009
NM_014844.5(TECPR2):c.2234G>A (p.Arg745Gln) rs374972168 0.00009
NM_014844.5(TECPR2):c.318T>C (p.Leu106=) rs769086551 0.00009
NM_014844.5(TECPR2):c.67A>G (p.Ile23Val) rs776524033 0.00009
NM_014844.5(TECPR2):c.1319del (p.Leu440fs) rs750908377 0.00008
NM_014844.5(TECPR2):c.3873C>T (p.His1291=) rs377631259 0.00008
NM_014844.5(TECPR2):c.1255G>A (p.Gly419Ser) rs779431365 0.00007
NM_014844.5(TECPR2):c.2250G>A (p.Thr750=) rs182655288 0.00007
NM_014844.5(TECPR2):c.3991G>A (p.Gly1331Arg) rs143705801 0.00007
NM_014844.5(TECPR2):c.4081+10C>T rs745954864 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.2514G>C (p.Pro838=) rs140913653 0.00006
NM_014844.5(TECPR2):c.2761G>A (p.Val921Met) rs760730551 0.00006
NM_014844.5(TECPR2):c.2970C>T (p.Leu990=) rs367970932 0.00006
NM_014844.5(TECPR2):c.3171C>T (p.Pro1057=) rs749964386 0.00006
NM_014844.5(TECPR2):c.3477G>A (p.Arg1159=) rs2295975 0.00006
NM_014844.5(TECPR2):c.3999C>T (p.Leu1333=) rs556751486 0.00006
NM_014844.5(TECPR2):c.4065C>T (p.Ser1355=) rs142318405 0.00006
NM_014844.5(TECPR2):c.1180A>C (p.Arg394=) rs549744502 0.00005
NM_014844.5(TECPR2):c.1652A>G (p.Glu551Gly) rs778600439 0.00005
NM_014844.5(TECPR2):c.3912C>T (p.Thr1304=) rs748689796 0.00005
NM_014844.5(TECPR2):c.72G>A (p.Pro24=) rs201004031 0.00005
NM_014844.5(TECPR2):c.1335C>T (p.Asn445=) rs778115838 0.00004
NM_014844.5(TECPR2):c.1518G>A (p.Ser506=) rs370643085 0.00004
NM_014844.5(TECPR2):c.2933+9G>A rs549959695 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.4119C>T (p.Pro1373=) rs536343745 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.1203C>T (p.Ser401=) rs759378757 0.00003
NM_014844.5(TECPR2):c.1803G>A (p.Pro601=) rs779281934 0.00003
NM_014844.5(TECPR2):c.2491G>T (p.Gly831Cys) rs201352197 0.00003
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.1791C>T (p.Leu597=) rs757180768 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.2518G>A (p.Ala840Thr) rs906936247 0.00002
NM_014844.5(TECPR2):c.2697G>A (p.Leu899=) rs755040646 0.00002
NM_014844.5(TECPR2):c.3000C>T (p.Asp1000=) rs200626084 0.00002
NM_014844.5(TECPR2):c.3360T>A (p.Ala1120=) rs774314281 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.4188C>T (p.Ala1396=) rs113941655 0.00002
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.142A>G (p.Ile48Val) rs774552033 0.00001
NM_014844.5(TECPR2):c.1643A>G (p.Asn548Ser) rs904496072 0.00001
NM_014844.5(TECPR2):c.1704T>G (p.Thr568=) rs749355080 0.00001
NM_014844.5(TECPR2):c.1810G>A (p.Ala604Thr) rs958569960 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.2527C>T (p.Arg843Cys) rs1337707151 0.00001
NM_014844.5(TECPR2):c.2528G>A (p.Arg843His) rs765981384 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.2694C>T (p.Ala898=) rs202031176 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.3196C>T (p.Arg1066Cys) rs776056002 0.00001
NM_014844.5(TECPR2):c.3399G>A (p.Thr1133=) rs765318084 0.00001
NM_014844.5(TECPR2):c.3416del (p.Leu1139fs) rs751970061 0.00001
NM_014844.5(TECPR2):c.3486G>A (p.Thr1162=) rs747983532 0.00001
NM_014844.5(TECPR2):c.3514C>G (p.Arg1172Gly) rs762957508 0.00001
NM_014844.5(TECPR2):c.3549G>A (p.Ala1183=) rs564868110 0.00001
NM_014844.5(TECPR2):c.3590A>G (p.Lys1197Arg) rs1230456153 0.00001
NM_014844.5(TECPR2):c.3744C>T (p.Pro1248=) rs373973558 0.00001
NM_014844.5(TECPR2):c.3792C>T (p.Pro1264=) rs766197921 0.00001
NM_014844.5(TECPR2):c.541A>G (p.Ser181Gly) rs200469835 0.00001
NM_014844.5(TECPR2):c.816G>A (p.Pro272=) rs369410138 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
NM_014844.5(TECPR2):c.*7C>G rs778208284
NM_014844.5(TECPR2):c.1176G>T (p.Arg392Ser) rs771574785
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.1397AGA[7] (p.Lys471dup) rs572609303
NM_014844.5(TECPR2):c.1492C>A (p.Gln498Lys) rs1018872661
NM_014844.5(TECPR2):c.1606G>C (p.Gly536Arg) rs186595127
NM_014844.5(TECPR2):c.1785G>A (p.Thr595=) rs1367573550
NM_014844.5(TECPR2):c.1869G>C (p.Gly623=) rs45605932
NM_014844.5(TECPR2):c.1872G>A (p.Ala624=) rs145129878
NM_014844.5(TECPR2):c.1872G>T (p.Ala624=) rs145129878
NM_014844.5(TECPR2):c.1925T>A (p.Val642Asp) rs746442659
NM_014844.5(TECPR2):c.1928C>T (p.Pro643Leu) rs1307864537
NM_014844.5(TECPR2):c.1944_1947del (p.Thr649fs) rs1595123894
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.2312T>A (p.Val771Glu) rs1555451565
NM_014844.5(TECPR2):c.2362G>T (p.Ala788Ser) rs551027659
NM_014844.5(TECPR2):c.2526G>T (p.Leu842=) rs199824149
NM_014844.5(TECPR2):c.2578+10CCCGCTCCCTGCT[3] rs3831019
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.2979G>A (p.Gln993=) rs1889962080
NM_014844.5(TECPR2):c.3111C>T (p.Cys1037=) rs560017522
NM_014844.5(TECPR2):c.3139A>C (p.Thr1047Pro) rs1890088141
NM_014844.5(TECPR2):c.3456C>T (p.Ser1152=) rs199827410
NM_014844.5(TECPR2):c.3474G>T (p.Ser1158=) rs376646346
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.3913G>T (p.Ala1305Ser) rs573719989
NM_014844.5(TECPR2):c.4030C>G (p.Pro1344Ala) rs763133422
NM_014844.5(TECPR2):c.4116G>A (p.Pro1372=) rs777406369
NM_014844.5(TECPR2):c.4116G>T (p.Pro1372=) rs777406369
NM_014844.5(TECPR2):c.4194G>A (p.Met1398Ile) rs757191728
NM_014844.5(TECPR2):c.423A>G (p.Lys141=) rs756199626
NM_014844.5(TECPR2):c.55CTC[1] (p.Leu20del) rs762675550
NM_014844.5(TECPR2):c.726A>T (p.Leu242=) rs748794723
NM_014844.5(TECPR2):c.741C>T (p.Val247=) rs551933071
NM_014844.5(TECPR2):c.952-3C>T rs1484530326

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