ClinVar Miner

List of variants reported as uncertain significance for basal ganglia disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (82):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 175
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HGVS dbSNP gnomAD frequency
NM_003690.5(PRKRA):c.-104G>A rs545506202 0.00168
NM_032409.3(PINK1):c.952A>T (p.Met318Leu) rs139226733 0.00093
NM_003560.4(PLA2G6):c.1615G>A (p.Gly539Ser) rs143826762 0.00092
NM_000157.4(GBA1):c.1200G>A (p.Met400Ile) rs149487315 0.00091
NM_001044.5(SLC6A3):c.499C>T (p.Leu167Phe) rs71653633 0.00080
NM_003690.4(PRKRA):c.-149T>C rs559331370 0.00066
NM_032409.3(PINK1):c.851C>A (p.Ser284Tyr) rs113092523 0.00056
NM_004562.3(PRKN):c.799T>C (p.Tyr267His) rs114696251 0.00055
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys) rs35658131 0.00055
NM_012179.4(FBXO7):c.1453G>A (p.Val485Ile) rs141286570 0.00054
NM_022089.4(ATP13A2):c.2972G>A (p.Arg991Gln) rs145548316 0.00050
NM_001044.5(SLC6A3):c.1155C>T (p.Asp385=) rs145114326 0.00044
NM_003690.5(PRKRA):c.-64C>G rs576729883 0.00041
NM_003560.4(PLA2G6):c.101C>T (p.Ser34Leu) rs147948449 0.00040
NM_003560.4(PLA2G6):c.416G>A (p.Arg139His) rs141825182 0.00038
NM_003560.4(PLA2G6):c.91G>A (p.Asp31Asn) rs150024227 0.00035
NM_022089.4(ATP13A2):c.1039+6C>T rs565724504 0.00035
NM_001044.5(SLC6A3):c.70G>A (p.Val24Met) rs201800694 0.00034
NM_022089.4(ATP13A2):c.3314C>T (p.Pro1105Leu) rs201756175 0.00034
NM_152296.5(ATP1A3):c.-148T>G rs769525784 0.00026
NM_000157.4(GBA1):c.1224G>A (p.Thr408=) rs138498426 0.00022
NM_198578.4(LRRK2):c.1324C>T (p.His442Tyr) rs568593066 0.00022
NM_198578.4(LRRK2):c.5822G>A (p.Arg1941His) rs77428810 0.00022
NM_003560.4(PLA2G6):c.439G>A (p.Ala147Thr) rs138672490 0.00020
NM_032409.3(PINK1):c.626C>T (p.Pro209Leu) rs34677717 0.00020
NM_003560.4(PLA2G6):c.1381C>T (p.Arg461Trp) rs76718524 0.00019
NM_004082.5(DCTN1):c.3127C>T (p.Arg1043Cys) rs140066692 0.00019
NM_004562.3(PRKN):c.930G>C (p.Glu310Asp) rs72480423 0.00018
NM_003560.4(PLA2G6):c.1427C>T (p.Thr476Ile) rs146684391 0.00017
NM_032409.3(PINK1):c.587C>T (p.Pro196Leu) rs138302371 0.00017
NM_000345.4(SNCA):c.349C>A (p.Pro117Thr) rs145138372 0.00016
NM_003560.4(PLA2G6):c.2234G>A (p.Arg745Gln) rs368514303 0.00016
NM_025243.4(SLC19A3):c.977G>T (p.Gly326Val) rs747823282 0.00016
NM_032409.3(PINK1):c.695C>T (p.Ala232Val) rs144071530 0.00016
NM_013247.5(HTRA2):c.77G>A (p.Gly26Glu) rs145946172 0.00015
NM_022089.4(ATP13A2):c.3472C>T (p.Arg1158Cys) rs201610681 0.00014
NM_022089.4(ATP13A2):c.3040G>A (p.Gly1014Ser) rs202166353 0.00013
NM_001044.5(SLC6A3):c.898G>A (p.Val300Ile) rs145782788 0.00012
NM_003560.4(PLA2G6):c.16C>T (p.Arg6Cys) rs143250889 0.00012
NM_022089.4(ATP13A2):c.1171G>A (p.Val391Ile) rs113105667 0.00012
NM_198578.4(LRRK2):c.3643G>A (p.Ala1215Thr) rs143710836 0.00012
NM_004082.5(DCTN1):c.3334A>G (p.Ser1112Gly) rs187434401 0.00011
NM_001377265.1(MAPT):c.1115C>T (p.Ala372Val) rs377402921 0.00010
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp) rs121909344 0.00010
NM_004562.3(PRKN):c.*121A>C rs557142572 0.00010
NM_004562.3(PRKN):c.247A>G (p.Thr83Ala) rs141825163 0.00010
NM_007262.5(PARK7):c.*125G>A rs779587926 0.00010
NM_012179.4(FBXO7):c.803A>G (p.Asn268Ser) rs188111542 0.00010
NM_022089.4(ATP13A2):c.839A>G (p.Lys280Arg) rs148094721 0.00010
NM_022089.4(ATP13A2):c.3518C>T (p.Pro1173Leu) rs372995036 0.00009
NM_032409.3(PINK1):c.745T>G (p.Leu249Val) rs145650643 0.00009
NM_004082.5(DCTN1):c.100G>C (p.Glu34Gln) rs151052060 0.00008
NM_022089.4(ATP13A2):c.2236G>A (p.Ala746Thr) rs147277743 0.00008
NM_032409.3(PINK1):c.835C>T (p.Arg279Cys) rs61735932 0.00008
NM_032409.3(PINK1):c.949G>A (p.Val317Ile) rs200949139 0.00008
NM_198578.4(LRRK2):c.2771G>A (p.Arg924His) rs200795874 0.00008
NM_198578.4(LRRK2):c.309G>C (p.Gln103His) rs200926937 0.00008
NM_198578.4(LRRK2):c.683G>C (p.Cys228Ser) rs56108242 0.00008
NM_000345.4(SNCA):c.150T>G (p.His50Gln) rs201106962 0.00007
NM_004082.5(DCTN1):c.460C>T (p.Arg154Cys) rs141670992 0.00007
NM_022089.4(ATP13A2):c.3193G>A (p.Val1065Met) rs377431904 0.00007
NM_032409.3(PINK1):c.1488G>A (p.Lys496=) rs56217826 0.00007
NM_032409.3(PINK1):c.565G>A (p.Gly189Arg) rs757581951 0.00007
NM_000157.4(GBA1):c.1495G>A (p.Val499Met) rs369068553 0.00006
NM_001044.5(SLC6A3):c.149C>T (p.Pro50Leu) rs146798197 0.00006
NM_001257180.2(SLC20A2):c.542G>A (p.Arg181Gln) rs140059610 0.00006
NM_003560.4(PLA2G6):c.1849G>A (p.Val617Ile) rs139579057 0.00006
NM_003560.4(PLA2G6):c.2240G>A (p.Arg747Gln) rs376144077 0.00006
NM_003560.4(PLA2G6):c.901C>T (p.Arg301Cys) rs367854265 0.00006
NM_004082.5(DCTN1):c.3557T>C (p.Met1186Thr) rs145819459 0.00006
NM_007262.5(PARK7):c.328A>G (p.Thr110Ala) rs45577037 0.00006
NM_022089.4(ATP13A2):c.1243C>T (p.Arg415Trp) rs768796427 0.00006
NM_022089.4(ATP13A2):c.745G>A (p.Ala249Thr) rs199661793 0.00006
NM_152296.5(ATP1A3):c.-64A>G rs373531937 0.00006
NM_198241.3(EIF4G1):c.3824T>A (p.Leu1275His) rs550525876 0.00006
NM_198578.4(LRRK2):c.546A>G (p.Lys182=) rs35517158 0.00006
NM_198578.4(LRRK2):c.6928A>G (p.Thr2310Ala) rs202179802 0.00006
NM_003560.4(PLA2G6):c.1649G>A (p.Arg550Gln) rs376051062 0.00005
NM_022089.4(ATP13A2):c.1202G>A (p.Cys401Tyr) rs377186549 0.00005
NM_032409.3(PINK1):c.802C>G (p.Leu268Val) rs372280083 0.00005
NM_198578.4(LRRK2):c.1874A>G (p.His625Arg) rs200787476 0.00005
NM_001044.5(SLC6A3):c.580C>T (p.Pro194Ser) rs756042082 0.00004
NM_001377265.1(MAPT):c.10C>A (p.Pro4Thr) rs974837695 0.00004
NM_001377265.1(MAPT):c.1807C>T (p.Arg603Cys) rs770274373 0.00004
NM_003560.4(PLA2G6):c.395G>A (p.Arg132His) rs763734863 0.00004
NM_003560.4(PLA2G6):c.481C>T (p.Arg161Cys) rs767260174 0.00004
NM_003560.4(PLA2G6):c.854G>A (p.Arg285His) rs372511574 0.00004
NM_003560.4(PLA2G6):c.898G>A (p.Ala300Thr) rs528966598 0.00004
NM_004562.3(PRKN):c.353G>C (p.Gly118Ala) rs144001694 0.00004
NM_022089.4(ATP13A2):c.*155C>T rs762111359 0.00004
NM_022089.4(ATP13A2):c.2746G>A (p.Val916Met) rs768674400 0.00004
NM_022089.4(ATP13A2):c.2828C>T (p.Thr943Ile) rs1401431520 0.00004
NM_022089.4(ATP13A2):c.3443G>A (p.Arg1148His) rs533548757 0.00004
NM_032409.3(PINK1):c.139G>C (p.Gly47Arg) rs746940423 0.00004
NM_032409.3(PINK1):c.620G>A (p.Arg207Gln) rs759468742 0.00004
NM_032409.3(PINK1):c.865C>A (p.Pro289Thr) rs777088052 0.00004
NM_198578.4(LRRK2):c.1546A>G (p.Met516Val) rs746747483 0.00004
NM_198578.4(LRRK2):c.2758G>A (p.Ala920Thr) rs201184634 0.00004
NM_198578.4(LRRK2):c.3018A>G (p.Ile1006Met) rs113217062 0.00004
NM_198578.4(LRRK2):c.3595C>T (p.Arg1199Trp) rs746433333 0.00004
NM_001377265.1(MAPT):c.1042T>C (p.Ser348Pro) rs753640366 0.00003
NM_003560.4(PLA2G6):c.116G>A (p.Arg39Gln) rs144910769 0.00003
NM_004082.5(DCTN1):c.414+1G>A rs576198476 0.00003
NM_004562.3(PRKN):c.1001G>A (p.Arg334His) rs746215864 0.00003
NM_018206.6(VPS35):c.851G>A (p.Arg284Gln) rs771276024 0.00003
NM_022089.4(ATP13A2):c.1103C>T (p.Thr368Ile) rs1033088325 0.00003
NM_198578.4(LRRK2):c.137C>T (p.Thr46Met) rs781394575 0.00003
NM_198578.4(LRRK2):c.1987T>C (p.Ser663Pro) rs78154388 0.00003
NM_198578.4(LRRK2):c.3091T>C (p.Cys1031Arg) rs201552816 0.00003
NM_198578.4(LRRK2):c.5870G>T (p.Arg1957Leu) rs201012950 0.00003
NM_198578.4(LRRK2):c.7382C>T (p.Ala2461Val) rs201037550 0.00003
NM_000157.4(GBA1):c.1346C>T (p.Thr449Met) rs757930613 0.00002
NM_000157.4(GBA1):c.247C>T (p.Arg83Cys) rs1141812 0.00002
NM_004082.5(DCTN1):c.2244C>G (p.Asp748Glu) rs751069902 0.00002
NM_022089.4(ATP13A2):c.1896G>A (p.Ser632=) rs575694238 0.00002
NM_022089.4(ATP13A2):c.3458G>A (p.Arg1153Gln) rs772666861 0.00002
NM_032409.3(PINK1):c.857C>T (p.Pro286Leu) rs146691996 0.00002
NM_032409.3(PINK1):c.959+4A>T rs758604046 0.00002
NM_198578.4(LRRK2):c.7186_7187dup (p.Val2396_Met2397insTer) rs281865056 0.00002
NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly) rs78396650 0.00001
NM_000157.4(GBA1):c.104C>T (p.Ser35Leu) rs757041827 0.00001
NM_001044.5(SLC6A3):c.1603G>A (p.Val535Met) rs553219765 0.00001
NM_001377265.1(MAPT):c.89C>T (p.Thr30Ile) rs374996228 0.00001
NM_002609.4(PDGFRB):c.419C>T (p.Thr140Met) rs138830253 0.00001
NM_003560.4(PLA2G6):c.1531C>G (p.Leu511Val) rs886057503 0.00001
NM_003560.4(PLA2G6):c.2236G>T (p.Ala746Ser) rs563222818 0.00001
NM_003560.4(PLA2G6):c.68G>A (p.Arg23Gln) rs372291638 0.00001
NM_004082.5(DCTN1):c.1837C>T (p.Pro613Ser) rs372808221 0.00001
NM_004082.5(DCTN1):c.2545G>A (p.Ala849Thr) rs769512188 0.00001
NM_004082.5(DCTN1):c.2686C>G (p.Leu896Val) rs545910781 0.00001
NM_004082.5(DCTN1):c.43G>A (p.Gly15Ser) rs72466482 0.00001
NM_004562.3(PRKN):c.551A>T (p.Asp184Val) rs142383136 0.00001
NM_012179.4(FBXO7):c.1388C>T (p.Ser463Leu) rs1182785309 0.00001
NM_012179.4(FBXO7):c.521C>T (p.Ser174Leu) rs376455464 0.00001
NM_018206.6(VPS35):c.1262T>A (p.Phe421Tyr) rs375087873 0.00001
NM_018206.6(VPS35):c.1313G>A (p.Cys438Tyr) rs745893720 0.00001
NM_022089.4(ATP13A2):c.-99G>C rs569658051 0.00001
NM_022089.4(ATP13A2):c.1169A>C (p.His390Pro) rs376004873 0.00001
NM_022089.4(ATP13A2):c.1314C>A (p.Leu438=) rs764435162 0.00001
NM_022089.4(ATP13A2):c.1420C>G (p.Pro474Ala) rs530658980 0.00001
NM_022089.4(ATP13A2):c.1774G>A (p.Asp592Asn) rs750921184 0.00001
NM_032409.3(PINK1):c.1123+4G>C rs760845466 0.00001
NM_032409.3(PINK1):c.1251+5G>A rs756873744 0.00001
NM_032409.3(PINK1):c.1573G>A (p.Asp525Asn) rs531477772 0.00001
NM_032409.3(PINK1):c.371C>T (p.Ala124Val) rs1274588239 0.00001
NM_032409.3(PINK1):c.388-10C>G rs763983499 0.00001
NM_152296.5(ATP1A3):c.2968G>A (p.Val990Ile) rs781786336 0.00001
NM_198578.4(LRRK2):c.2333G>A (p.Ser778Asn) rs1356461363 0.00001
NM_198578.4(LRRK2):c.4117G>A (p.Val1373Met) rs756381499 0.00001
NM_198578.4(LRRK2):c.500T>G (p.Met167Arg) rs201411683 0.00001
NM_198578.4(LRRK2):c.6220G>A (p.Val2074Ile) rs200498558 0.00001
NM_198578.4(LRRK2):c.7324C>T (p.Arg2442Cys) rs199893519 0.00001
NM_000157.4(GBA1):c.10T>C (p.Ser4Pro) rs2148083300
NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr) rs1571965884
NM_000157.4(GBA1):c.1506-10_1506-9delinsGA rs1557900564
NM_003560.4(PLA2G6):c.1685A>G (p.Glu562Gly) rs751508677
NM_003560.4(PLA2G6):c.1786C>T (p.Leu596Phe) rs2087181118
NM_003560.4(PLA2G6):c.1904G>A (p.Arg635Gln) rs387906863
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) rs145958900
NM_004082.5(DCTN1):c.3537G>C (p.Lys1179Asn) rs148146325
NM_004181.5(UCHL1):c.*250T>C rs564857603
NM_004562.3(PRKN):c.*140A>G rs1182122095
NM_007262.5(PARK7):c.500C>G (p.Ala167Gly) rs886046546
NM_012179.4(FBXO7):c.1536_1539del (p.Arg513fs) rs772175765
NM_012179.4(FBXO7):c.674C>G (p.Pro225Arg) rs112660869
NM_018206.6(VPS35):c.-19C>T rs573920049
NM_022089.4(ATP13A2):c.-171G>C rs1350517492
NM_022089.4(ATP13A2):c.2858C>T (p.Thr953Met) rs148721722
NM_032409.3(PINK1):c.1220G>A (p.Arg407Gln) rs556540177
NM_152296.5(ATP1A3):c.-130GACG[3] rs879996553
NM_198578.4(LRRK2):c.1240G>A (p.Val414Ile) rs1565682626
NM_198578.4(LRRK2):c.5183G>T (p.Arg1728Leu) rs145364431
NM_198578.4(LRRK2):c.6187_6191del (p.Leu2062_Leu2063insTer) rs111739194
NM_198578.4(LRRK2):c.7146A>C (p.Lys2382Asn) rs919570241
NM_198578.4(LRRK2):c.7430G>A (p.Arg2477Gln) rs146428335

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