ClinVar Miner

List of variants reported as benign for autosomal dominant cerebellar ataxia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (78):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 281
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HGVS dbSNP gnomAD frequency
NM_198994.3(TGM6):c.1968-10C>T rs6036467 0.98682
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405 0.93204
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362 0.89099
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=) rs711631 0.80127
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_006796.3(AFG3L2):c.752+6C>T rs8097342 0.67671
NM_198994.3(TGM6):c.850+12G>A rs2076404 0.61481
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=) rs901854 0.59379
NM_173500.4(TTBK2):c.-250G>C rs12437637 0.57925
NM_024411.4(PDYN):c.-381A>G rs1997794 0.49716
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068 0.47359
NM_198994.3(TGM6):c.*31T>C rs2076652 0.44571
NM_198994.3(TGM6):c.1968-11C>T rs2076653 0.44564
NM_002739.5(PRKCG):c.686+14G>T rs3745405 0.36258
NM_024411.5(PDYN):c.*1030C>T rs2235749 0.36165
NM_002739.5(PRKCG):c.567T>C (p.Asn189=) rs3745406 0.35855
NM_024411.5(PDYN):c.*743T>C rs910080 0.35005
NM_001378452.1(ITPR1):c.6717A>G (p.Thr2239=) rs13079522 0.30736
NM_001376.5(DYNC1H1):c.13080T>C (p.Thr4360=) rs13749 0.29982
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903 0.29622
NM_004115.4(FGF14):c.*1612G>T rs1046197 0.28765
NM_006796.3(AFG3L2):c.*28G>C rs1129115 0.28281
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) rs2306877 0.26698
NM_198994.3(TGM6):c.1476G>A (p.Lys492=) rs2295077 0.26375
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_024411.5(PDYN):c.600T>C (p.His200=) rs6045819 0.16142
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028 0.15920
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_006796.3(AFG3L2):c.-96G>C rs12327346 0.14255
NM_198994.3(TGM6):c.789G>A (p.Lys263=) rs6114033 0.13293
NM_001378452.1(ITPR1):c.1151+5C>G rs2306868 0.13045
NM_001376.5(DYNC1H1):c.12087C>A (p.His4029Gln) rs10129889 0.12866
NM_024411.5(PDYN):c.*656T>C rs10485703 0.12279
NM_173500.4(TTBK2):c.-8G>A rs16957250 0.08720
NM_198994.3(TGM6):c.1093+5G>A rs6137891 0.07885
NM_002739.5(PRKCG):c.*428C>G rs57483118 0.06034
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505 0.05906
NM_001378452.1(ITPR1):c.*777C>T rs41315884 0.05676
NM_001378452.1(ITPR1):c.*847G>A rs41304181 0.05655
NM_001378452.1(ITPR1):c.1412+11C>T rs7632000 0.04752
NM_001376.5(DYNC1H1):c.*190A>G rs13901 0.04745
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_002222.6(ITPR1):c.*1385A>G rs9875113 0.04159
NM_002739.5(PRKCG):c.*596C>T rs60891969 0.04062
NM_001378452.1(ITPR1):c.1412+13G>A rs11920643 0.04035
NM_198994.3(TGM6):c.477C>T (p.Ser159=) rs16984872 0.03978
NM_001376.5(DYNC1H1):c.*232C>T rs17512996 0.03685
NM_002739.5(PRKCG):c.207C>T (p.Cys69=) rs307955 0.03300
NM_001378452.1(ITPR1):c.-81A>G rs13319720 0.03249
NM_002739.5(PRKCG):c.1497T>C (p.Phe499=) rs2242244 0.03204
NM_001376.5(DYNC1H1):c.7449C>T (p.Ile2483=) rs17541158 0.03068
NM_001376.5(DYNC1H1):c.7524A>G (p.Leu2508=) rs17541179 0.03009
NM_173500.4(TTBK2):c.3251C>T (p.Thr1084Met) rs34348991 0.02971
NM_198994.3(TGM6):c.422C>A (p.Ala141Glu) rs73894929 0.02857
NM_001378452.1(ITPR1):c.*1156A>C rs73099961 0.02738
NM_001378452.1(ITPR1):c.*643A>T rs41305987 0.02460
NM_001378452.1(ITPR1):c.*47G>C rs74998763 0.02401
NM_001378452.1(ITPR1):c.*48T>G rs77764633 0.02400
NM_006796.3(AFG3L2):c.1026+8G>A rs8091858 0.02347
NM_024411.5(PDYN):c.*369A>G rs73894108 0.02261
NM_002739.5(PRKCG):c.1404C>G (p.Leu468=) rs35079513 0.02248
NM_004115.4(FGF14):c.*471A>C rs75498912 0.02130
NM_024411.5(PDYN):c.*556C>T rs73571349 0.02074
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=) rs34491089 0.02052
NM_024411.5(PDYN):c.*138A>G rs111525766 0.01924
NM_006796.3(AFG3L2):c.*2G>A rs113981080 0.01903
NM_004115.4(FGF14):c.*1063G>A rs58555898 0.01834
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_001376.5(DYNC1H1):c.6221+13G>T rs17541088 0.01447
NM_001378452.1(ITPR1):c.4623C>T (p.Ser1541=) rs34748547 0.01444
NM_198994.3(TGM6):c.1342C>T (p.Arg448Trp) rs147979536 0.01429
NM_198994.3(TGM6):c.989+11C>T rs6048684 0.01409
NM_004115.4(FGF14):c.481T>C (p.Leu161=) rs77082831 0.01311
NM_001378452.1(ITPR1):c.8166C>A (p.Gly2722=) rs73098087 0.01305
NM_173500.4(TTBK2):c.3669C>T (p.His1223=) rs74398902 0.01170
NM_006946.4(SPTBN2):c.885+5T>C rs114331192 0.01156
NM_001378452.1(ITPR1):c.438C>T (p.Ala146=) rs61741506 0.01135
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val) rs35789999 0.01046
NM_001378452.1(ITPR1):c.5353+4C>T rs60849754 0.01038
NM_024411.5(PDYN):c.*1396C>T rs6106013 0.01038
NM_001378452.1(ITPR1):c.1302G>A (p.Pro434=) rs34252981 0.01036
NM_004115.4(FGF14):c.*31G>A rs149661933 0.01007
NM_173500.4(TTBK2):c.2592A>G (p.Glu864=) rs56307230 0.01001
NM_024411.5(PDYN):c.*1029A>G rs115095625 0.00982
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196 0.00962
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_173500.4(TTBK2):c.*1162T>A rs79592696 0.00943
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=) rs145220403 0.00924
NM_006796.3(AFG3L2):c.*109A>C rs114203162 0.00915
NM_001378452.1(ITPR1):c.3327+12C>T rs116022052 0.00894
NM_002739.5(PRKCG):c.*199C>T rs114091656 0.00888
NM_001378452.1(ITPR1):c.1251+10G>A rs75936691 0.00811
NM_001378452.1(ITPR1):c.3327+4G>A rs2306878 0.00785
NM_002739.5(PRKCG):c.1722C>T (p.Tyr574=) rs34616316 0.00781
NM_002739.5(PRKCG):c.2059A>G (p.Ser687Gly) rs73937614 0.00778
NM_001376.5(DYNC1H1):c.2511A>G (p.Ala837=) rs17512054 0.00771
NM_024411.5(PDYN):c.*356T>C rs114429882 0.00768
NM_001378452.1(ITPR1):c.2204+13C>T rs141519515 0.00759
NM_024411.5(PDYN):c.575A>T (p.Glu192Val) rs45469293 0.00742
NM_198994.3(TGM6):c.1103G>A (p.Arg368Gln) rs75122556 0.00731
NM_198994.3(TGM6):c.42G>A (p.Ser14=) rs149394698 0.00719
NM_004115.4(FGF14):c.*744C>A rs79379700 0.00714
NM_006946.4(SPTBN2):c.4985+11C>T rs11227572 0.00707
NM_198994.3(TGM6):c.1126G>A (p.Ala376Thr) rs79724097 0.00706
NM_024411.5(PDYN):c.436A>C (p.Met146Leu) rs77155664 0.00698
NM_024411.5(PDYN):c.*1443G>A rs148395893 0.00643
NM_198994.3(TGM6):c.1656C>T (p.Ala552=) rs75601099 0.00634
NM_006796.3(AFG3L2):c.-71C>T rs571340907 0.00605
NM_001378452.1(ITPR1):c.1536A>G (p.Glu512=) rs35047189 0.00575
NM_198994.3(TGM6):c.1657G>A (p.Val553Met) rs74338361 0.00574
NM_173500.4(TTBK2):c.*966C>T rs145576687 0.00571
NM_004115.4(FGF14):c.*554G>A rs141793298 0.00557
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_006946.4(SPTBN2):c.6723-14C>T rs186232313 0.00525
NM_001378452.1(ITPR1):c.6510+7T>C rs115430385 0.00496
NM_001376.5(DYNC1H1):c.11765C>T (p.Pro3922Leu) rs141696238 0.00495
NM_006796.3(AFG3L2):c.-137G>C rs191000529 0.00494
NM_173500.4(TTBK2):c.2133C>A (p.Phe711Leu) rs76000738 0.00477
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=) rs41289636 0.00470
NM_001376.5(DYNC1H1):c.11685C>T (p.Thr3895=) rs17541519 0.00451
NM_001376.5(DYNC1H1):c.46T>C (p.Leu16=) rs2273437 0.00449
NM_001376.5(DYNC1H1):c.2625G>A (p.Ser875=) rs17512082 0.00448
NM_001376.5(DYNC1H1):c.7632A>G (p.Glu2544=) rs17512460 0.00447
NM_173500.4(TTBK2):c.980+8C>A rs143836514 0.00447
NM_001376.5(DYNC1H1):c.-53G>A rs2273436 0.00446
NM_001376.5(DYNC1H1):c.-5A>G rs17511858 0.00446
NM_198994.3(TGM6):c.12C>G (p.Ile4Met) rs139796716 0.00438
NM_001378452.1(ITPR1):c.4263C>G (p.His1421Gln) rs61757110 0.00436
NM_198994.3(TGM6):c.1235G>A (p.Arg412His) rs142679146 0.00410
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile) rs41289628 0.00391
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258 0.00381
NM_198994.3(TGM6):c.1580T>A (p.Val527Glu) rs61729226 0.00370
NM_198994.3(TGM6):c.481A>G (p.Ser161Gly) rs141930579 0.00348
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650 0.00332
NM_001376.5(DYNC1H1):c.8886+13G>A rs17541317 0.00322
NM_001378452.1(ITPR1):c.6117G>A (p.Ala2039=) rs139528715 0.00306
NM_001376.5(DYNC1H1):c.1587C>T (p.Asn529=) rs138418906 0.00302
NM_001378452.1(ITPR1):c.2439G>A (p.Ser813=) rs35946460 0.00289
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_001376.5(DYNC1H1):c.5298G>T (p.Leu1766=) rs149395439 0.00286
NM_173500.4(TTBK2):c.937A>G (p.Thr313Ala) rs56017612 0.00284
NM_006946.4(SPTBN2):c.5950-8G>A rs201759431 0.00277
NM_173500.4(TTBK2):c.2210T>C (p.Ile737Thr) rs146515654 0.00267
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=) rs182840163 0.00248
NM_198994.3(TGM6):c.*87C>A rs45544131 0.00240
NM_001378452.1(ITPR1):c.*979A>T rs147782346 0.00226
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) rs61757111 0.00215
NM_001378452.1(ITPR1):c.5621T>G (p.Val1874Gly) rs143093165 0.00213
NM_006946.4(SPTBN2):c.6896+11G>A rs141969559 0.00203
NM_001378452.1(ITPR1):c.930G>A (p.Thr310=) rs28565126 0.00201
NM_001378452.1(ITPR1):c.7509T>C (p.Asp2503=) rs79720149 0.00191
NM_004115.4(FGF14):c.124G>T (p.Gly42Cys) rs141304687 0.00191
NM_002739.5(PRKCG):c.*670T>C rs186000310 0.00190
NM_002739.5(PRKCG):c.1941C>T (p.Phe647=) rs2242243 0.00188
NM_006796.3(AFG3L2):c.1664-9T>C rs200476229 0.00182
NM_001378452.1(ITPR1):c.*1196T>C rs565045968 0.00178
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_173500.4(TTBK2):c.1059C>T (p.Ser353=) rs200405805 0.00172
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly) rs61751570 0.00168
NM_198994.3(TGM6):c.2052G>A (p.Val684=) rs149369357 0.00165
NM_004115.4(FGF14):c.636T>C (p.His212=) rs41281644 0.00149
NM_198994.3(TGM6):c.1523G>A (p.Gly508Asp) rs140719871 0.00149
NM_001378452.1(ITPR1):c.2007-3T>C rs200335594 0.00148
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=) rs186541002 0.00143
NM_173500.4(TTBK2):c.*581A>T rs575564250 0.00142
NM_173500.4(TTBK2):c.3185C>T (p.Thr1062Ile) rs55833708 0.00138
NM_001376.5(DYNC1H1):c.5001C>T (p.Asn1667=) rs117199211 0.00137
NM_173500.4(TTBK2):c.3331C>G (p.Leu1111Val) rs144199562 0.00136
NM_198994.3(TGM6):c.1995G>C (p.Arg665Ser) rs138807504 0.00136
NM_198994.3(TGM6):c.1216G>A (p.Glu406Lys) rs144338465 0.00135
NM_006946.4(SPTBN2):c.1654-13G>A rs200980512 0.00134
NM_006796.3(AFG3L2):c.-32C>T rs556432963 0.00133
NM_001376.5(DYNC1H1):c.8304G>A (p.Pro2768=) rs77113510 0.00132
NM_001376.5(DYNC1H1):c.2721T>C (p.Ile907=) rs114021657 0.00125
NM_001376.5(DYNC1H1):c.7458G>T (p.Leu2486=) rs17541165 0.00125
NM_173500.4(TTBK2):c.2941C>G (p.Leu981Val) rs180791005 0.00124
NM_001378452.1(ITPR1):c.4837T>C (p.Leu1613=) rs367643585 0.00120
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=) rs142527379 0.00107
NM_001376.5(DYNC1H1):c.13440C>T (p.Ser4480=) rs150286673 0.00103
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val) rs3749383 0.00102
NM_006796.3(AFG3L2):c.1319-7C>T rs182327153 0.00102
NM_002739.5(PRKCG):c.642G>A (p.Thr214=) rs77550964 0.00099
NM_006946.4(SPTBN2):c.4985+12G>A rs199692345 0.00098
NM_001376.5(DYNC1H1):c.5295A>G (p.Ala1765=) rs139919955 0.00096
NM_173500.3(TTBK2):c.-413G>C rs528520159 0.00096
NM_173500.4(TTBK2):c.3329G>A (p.Arg1110His) rs146279300 0.00094
NM_001376.5(DYNC1H1):c.13764G>A (p.Thr4588=) rs35079638 0.00088
NM_006796.3(AFG3L2):c.400-14C>G rs192002414 0.00088
NM_001376.5(DYNC1H1):c.10065T>C (p.Ser3355=) rs80096622 0.00087
NM_198994.3(TGM6):c.245G>C (p.Gly82Ala) rs144094215 0.00080
NM_001378452.1(ITPR1):c.5466C>T (p.Asn1822=) rs113368815 0.00078
NM_001378452.1(ITPR1):c.3765C>T (p.Cys1255=) rs140402012 0.00077
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr) rs201144431 0.00071
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr) rs149605021 0.00069
NM_001378452.1(ITPR1):c.1926C>T (p.Asn642=) rs61757106 0.00066
NM_001376.5(DYNC1H1):c.3495T>C (p.Asp1165=) rs144359313 0.00063
NM_001378452.1(ITPR1):c.3660G>A (p.Ala1220=) rs199960483 0.00063
NM_002739.5(PRKCG):c.1836C>T (p.Gly612=) rs56211557 0.00059
NM_001378452.1(ITPR1):c.*121G>C rs146903558 0.00055
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=) rs193212750 0.00051
NM_002222.6(ITPR1):c.*1533G>A rs377290142 0.00044
NM_004115.4(FGF14):c.*176C>G rs191705440 0.00039
NM_001376.5(DYNC1H1):c.738A>G (p.Gln246=) rs117189734 0.00037
NM_001378452.1(ITPR1):c.3657C>T (p.Gly1219=) rs201621621 0.00037
NM_198994.3(TGM6):c.555C>T (p.Asp185=) rs144101264 0.00036
NM_001376.5(DYNC1H1):c.4395+2C>T rs192594531 0.00035
NM_001376.5(DYNC1H1):c.12514-9C>A rs74874468 0.00032
NM_001378452.1(ITPR1):c.4854C>T (p.Ser1618=) rs373127487 0.00031
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226 0.00030
NM_173500.4(TTBK2):c.2171G>A (p.Gly724Glu) rs201524659 0.00027
NM_198994.3(TGM6):c.1171G>A (p.Val391Met) rs116904482 0.00026
NM_198994.3(TGM6):c.1040C>T (p.Pro347Leu) rs183670042 0.00024
NM_001378452.1(ITPR1):c.*1008A>G rs141084091 0.00022
NM_001378452.1(ITPR1):c.7491C>T (p.Ser2497=) rs371986594 0.00022
NM_001378452.1(ITPR1):c.882C>T (p.Gly294=) rs370157764 0.00022
NM_198994.3(TGM6):c.940G>A (p.Val314Met) rs202184911 0.00021
NM_001376.5(DYNC1H1):c.7463G>A (p.Arg2488His) rs149581331 0.00019
NM_173500.4(TTBK2):c.*490T>C rs142589086 0.00018
NM_198994.3(TGM6):c.31T>G (p.Trp11Gly) rs141178275 0.00018
NM_002739.5(PRKCG):c.286-12C>A rs143352499 0.00017
NM_001376.5(DYNC1H1):c.4515G>A (p.Ser1505=) rs186932188 0.00016
NM_001378452.1(ITPR1):c.2007-7T>G rs764512335 0.00016
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=) rs200534989 0.00016
NM_006796.3(AFG3L2):c.498C>T (p.Ser166=) rs141538541 0.00016
NM_024411.5(PDYN):c.*836C>G rs80315813 0.00016
NM_173500.4(TTBK2):c.1100A>T (p.Lys367Ile) rs764753481 0.00013
NM_173500.4(TTBK2):c.2418A>G (p.Pro806=) rs185441376 0.00013
NM_001378452.1(ITPR1):c.2280G>T (p.Leu760=) rs375801584 0.00011
NM_001378452.1(ITPR1):c.7737C>T (p.Leu2579=) rs148734757 0.00011
NM_001376.5(DYNC1H1):c.7152C>T (p.Ser2384=) rs376471830 0.00009
NM_024411.5(PDYN):c.*78A>G rs537887207 0.00009
NM_001378452.1(ITPR1):c.997-6C>T rs139421901 0.00008
NM_002739.5(PRKCG):c.498G>T (p.Arg166=) rs148370843 0.00007
NM_004115.4(FGF14):c.*567G>C rs546536488 0.00007
NM_006796.2(AFG3L2):c.-151C>T rs554944971 0.00007
NM_001376.5(DYNC1H1):c.12685-3C>T rs149824412 0.00006
NM_024411.5(PDYN):c.*1457C>G rs529380614 0.00006
NM_024411.5(PDYN):c.*225T>C rs569014510 0.00006
NM_198994.3(TGM6):c.883G>A (p.Val295Met) rs200341133 0.00005
NM_001378452.1(ITPR1):c.6808+8C>G rs2270749 0.00004
NM_198994.3(TGM6):c.992A>G (p.Asn331Ser) rs138323389 0.00004
NM_001376.5(DYNC1H1):c.11460+12G>A rs17512790 0.00003
NM_001378452.1(ITPR1):c.625-14A>T rs368114873 0.00003
NM_001378452.1(ITPR1):c.-244G>A rs577585180 0.00002
NM_001378452.1(ITPR1):c.195C>G (p.Arg65=) rs563347395 0.00002
NM_173500.4(TTBK2):c.3517C>T (p.Arg1173Trp) rs373828657 0.00002
NM_001376.5(DYNC1H1):c.12759C>T (p.Gly4253=) rs529010293 0.00001
NM_001378452.1(ITPR1):c.2862G>A (p.Met954Ile) rs543514234 0.00001
NM_001378452.1(ITPR1):c.7701+3A>G rs533303665 0.00001
NM_004115.4(FGF14):c.608-10C>T rs574476283 0.00001
NM_006796.3(AFG3L2):c.215-5A>C rs371046479 0.00001
NM_006946.4(SPTBN2):c.4279-8G>A rs369614446 0.00001
NM_006946.4(SPTBN2):c.6502-9C>T rs545190212 0.00001
NM_001376.5(DYNC1H1):c.11409G>A (p.Pro3803=) rs17512783
NM_001376.5(DYNC1H1):c.12354G>T (p.Pro4118=) rs143574214
NM_001378452.1(ITPR1):c.-315C>T rs572878578
NM_001378452.1(ITPR1):c.-341A>T rs565843811
NM_001378452.1(ITPR1):c.1125G>A (p.Leu375=) rs2306869
NM_001378452.1(ITPR1):c.1125G>C (p.Leu375=) rs2306869
NM_001378452.1(ITPR1):c.3705C>T (p.Ala1235=) rs34635052
NM_001378452.1(ITPR1):c.4227G>C (p.Leu1409=) rs555819278
NM_002222.6(ITPR1):c.*1531G>T rs9817206
NM_004115.4(FGF14):c.*1387_*1390dup rs10626847
NM_004115.4(FGF14):c.*1618T>A rs15608
NM_004115.4(FGF14):c.*972dup rs34628929
NM_004115.4(FGF14):c.468C>T (p.Ile156=) rs558694053
NM_004115.4(FGF14):c.693G>A (p.Ala231=) rs34397704
NM_006796.3(AFG3L2):c.*311C>T rs79884272
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe) rs117182113
NM_006946.4(SPTBN2):c.1351-7G>A rs116078747
NM_006946.4(SPTBN2):c.1351-7G>T rs116078747
NM_024411.5(PDYN):c.*1394C>A rs112661575
NM_024411.5(PDYN):c.*771T>C rs910079
NM_173500.4(TTBK2):c.1499G>C (p.Arg500Pro) rs56039839
NM_198994.3(TGM6):c.-36T>C rs371018532
NM_198994.3(TGM6):c.1198A>G (p.Ile400Val) rs552530897

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