ClinVar Miner

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

Included ClinVar conditions (253):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 737
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HGVS dbSNP gnomAD frequency
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377 0.99149
NM_198994.3(TGM6):c.1968-10C>T rs6036467 0.98682
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
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_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) rs1800354 0.83747
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916 0.82174
NM_003383.5(VLDLR):c.-69A>G rs12379259 0.81906
NM_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
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_015046.7(SETX):c.3576T>G (p.Asp1192Glu) rs1185193 0.76694
NM_015046.7(SETX):c.1077T>C (p.Tyr359=) rs9411449 0.75774
NM_001173990.3(TMEM216):c.*558G>A rs7607 0.73129
NM_033064.5(ATCAY):c.*2586A>G rs8104659 0.72881
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg) rs1183768 0.68476
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val) rs543573 0.68049
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_006796.3(AFG3L2):c.752+6C>T rs8097342 0.67671
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724 0.64816
NM_001195248.2(APTX):c.484-13G>T rs10123944 0.62521
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135 0.62211
NM_198994.3(TGM6):c.850+12G>A rs2076404 0.61481
NM_014053.4(FLVCR1):c.*1151A>G rs6682947 0.60512
NM_014053.4(FLVCR1):c.*339T>G rs12074192 0.60505
NM_014053.4(FLVCR1):c.*1609A>G rs12405742 0.59824
NM_001386140.1(MTTP):c.*1046C>G rs1061271 0.59509
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=) rs901854 0.59379
NM_000370.3(TTPA):c.663+11T>C rs4501570 0.59337
NM_000370.3(TTPA):c.*1093G>A rs4587328 0.59276
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165 0.58882
NM_173500.4(TTBK2):c.-250G>C rs12437637 0.57925
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102 0.57769
NM_182961.4(SYNE1):c.11580+15C>T rs6908392 0.57402
NM_001378615.1(CC2D2A):c.*21G>C rs1134634 0.57021
NM_018075.5(ANO10):c.1293+9A>G rs7616708 0.56196
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434 0.55815
NM_018718.3(CEP41):c.*5102G>A rs1990790 0.54035
NM_020247.4(COQ8A):c.*815C>T rs10495274 0.53093
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52364
NM_000370.3(TTPA):c.*1487G>A rs6472068 0.51778
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_182961.4(SYNE1):c.9147-13G>A rs214955 0.49738
NM_024411.4(PDYN):c.-381A>G rs1997794 0.49716
NM_182961.4(SYNE1):c.12795-12A>G rs9478314 0.48867
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro) rs6493068 0.47359
NM_001386140.1(MTTP):c.891C>G (p.His297Gln) rs2306985 0.47212
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_014053.4(FLVCR1):c.-86C>T rs2201603 0.45780
NM_020247.5(COQ8A):c.1660-9T>C rs7552783 0.45219
NM_014053.4(FLVCR1):c.*2813G>A rs1284854 0.45117
NM_198994.3(TGM6):c.*31T>C rs2076652 0.44571
NM_198994.3(TGM6):c.1968-11C>T rs2076653 0.44564
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val) rs1056899 0.44536
NM_014053.4(FLVCR1):c.*2578G>A rs1284856 0.42748
NM_014053.4(FLVCR1):c.*2709T>C rs1284855 0.42731
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_033064.5(ATCAY):c.*823C>T rs10424392 0.39386
NM_018718.3(CEP41):c.-5A>C rs2287371 0.39010
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090 0.38895
NM_014053.4(FLVCR1):c.*1826C>T rs12567976 0.38865
NM_014053.4(FLVCR1):c.*2419G>A rs10864027 0.38756
NM_014053.4(FLVCR1):c.*1793C>T rs12567975 0.38742
NM_033064.5(ATCAY):c.*3181G>A rs10412199 0.37873
NM_017791.3(FLVCR2):c.648C>G (p.Ser216=) rs2287017 0.37676
NM_017791.3(FLVCR2):c.47T>C (p.Val16Ala) rs2287015 0.37653
NM_182961.4(SYNE1):c.24968G>C (p.Gly8323Ala) rs2252755 0.36980
NM_018718.3(CEP41):c.*4295G>C rs4728195 0.36596
NM_014053.4(FLVCR1):c.*788C>T rs6670064 0.36556
NM_014053.4(FLVCR1):c.*626T>A rs11582817 0.36511
NM_017791.3(FLVCR2):c.-96T>C rs11845734 0.36446
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_021830.5(TWNK):c.-605G>T rs3740484 0.35155
NM_024411.5(PDYN):c.*743T>C rs910080 0.35005
NM_001347702.2(SYNE1):c.1458A>G (p.Glu486=) rs2747662 0.33426
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala) rs2296871 0.31596
NM_015046.7(SETX):c.5811T>C (p.Asp1937=) rs2296869 0.31585
NM_003383.5(VLDLR):c.-56C>T rs34881325 0.31505
NM_003383.5(VLDLR):c.82+7G>A rs2219143 0.31376
NM_020247.5(COQ8A):c.*464G>A rs8159 0.31059
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_182961.4(SYNE1):c.24825G>A (p.Pro8275=) rs2252748 0.29787
NM_001376.5(DYNC1H1):c.13372+9G>A rs1004903 0.29622
NM_017651.4(AHI1):c.-293G>T rs13197384 0.29491
NM_021830.5(TWNK):c.*766A>T rs3740488 0.28823
NM_004115.4(FGF14):c.*1612G>T rs1046197 0.28765
NM_021830.5(TWNK):c.1593-5C>T rs3740485 0.28642
NM_021830.5(TWNK):c.1593-3T>C rs3740486 0.28631
NM_006796.3(AFG3L2):c.*28G>C rs1129115 0.28281
NM_001134831.2(AHI1):c.*218C>T rs1052502 0.27386
NM_182961.4(SYNE1):c.21656+13T>C rs9383976 0.26855
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_182961.4(SYNE1):c.17346+7G>A rs9383985 0.26223
NM_001386140.1(MTTP):c.383T>C (p.Ile128Thr) rs3816873 0.26064
NM_000253.3(MTTP):c.-241G>A rs11944752 0.26041
NM_018319.4(TDP1):c.-230-14C>A rs28365055 0.25524
NM_018319.4(TDP1):c.291A>G (p.Gln97=) rs3825663 0.25304
NM_003383.5(VLDLR):c.2416+8G>T rs6145 0.24562
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_015046.7(SETX):c.5781+12dup rs3831154 0.24271
NM_182961.4(SYNE1):c.*182G>A rs12681 0.23624
NM_033071.4(SYNE1):c.*750G>T rs2813558 0.23608
NM_182961.4(SYNE1):c.8384C>T (p.Ala2795Val) rs214950 0.23524
NM_018718.3(CEP41):c.*4037A>G rs7793239 0.23508
NM_014053.4(FLVCR1):c.*844T>C rs12565125 0.22460
NM_014053.4(FLVCR1):c.*931C>T rs12567713 0.21766
NM_014053.4(FLVCR1):c.*1106C>T rs12567728 0.21651
NM_014053.4(FLVCR1):c.*673G>A rs41301027 0.21642
NM_014053.4(FLVCR1):c.1593+9T>C rs17019870 0.21623
NM_014053.4(FLVCR1):c.*2968G>A rs10902 0.21622
NM_014053.4(FLVCR1):c.*2908G>A rs1284853 0.21097
NM_014053.4(FLVCR1):c.*3313G>T rs15903 0.21069
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_018319.4(TDP1):c.*77C>T rs9488 0.20063
NM_182961.4(SYNE1):c.*103C>A rs2250122 0.19913
NM_182961.4(SYNE1):c.20530-14G>A rs2296254 0.19082
NM_018718.3(CEP41):c.*2041G>A rs73152868 0.18522
NM_017791.3(FLVCR2):c.376C>T (p.Leu126=) rs8011292 0.17455
NM_018718.3(CEP41):c.*1859G>T rs73152869 0.17105
NM_014053.4(FLVCR1):c.*1600G>A rs55793082 0.16870
NM_001376.5(DYNC1H1):c.624G>A (p.Pro208=) rs3818188 0.16558
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_015046.7(SETX):c.*562C>A rs11787894 0.16282
NM_033064.5(ATCAY):c.1074-14T>C rs10420591 0.16262
NM_015046.7(SETX):c.*626C>T rs11795382 0.16247
NM_024411.5(PDYN):c.600T>C (p.His200=) rs6045819 0.16142
NM_003383.5(VLDLR):c.*551T>C rs8210 0.16040
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028 0.15920
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_018718.3(CEP41):c.*1931C>T rs17133175 0.15684
NM_001376.5(DYNC1H1):c.3600A>G (p.Gln1200=) rs12893215 0.15549
NM_000253.3(MTTP):c.-252G>C rs11944749 0.15525
NM_003383.5(VLDLR):c.1187-3C>T rs11789583 0.15129
NM_001376.5(DYNC1H1):c.8928A>G (p.Leu2976=) rs8010870 0.14754
NM_182961.4(SYNE1):c.17745C>T (p.His5915=) rs12664753 0.14557
NM_006796.3(AFG3L2):c.-96G>C rs12327346 0.14255
NM_003383.5(VLDLR):c.2067A>G (p.Gln689=) rs6148 0.13882
NM_182961.4(SYNE1):c.22671C>T (p.Ile7557=) rs3798756 0.13297
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_182961.4(SYNE1):c.12276C>T (p.Leu4092=) rs71575926 0.12377
NM_024411.5(PDYN):c.*656T>C rs10485703 0.12279
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12209
NM_015046.7(SETX):c.1979C>G (p.Ala660Gly) rs882709 0.12168
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_018718.3(CEP41):c.*3887C>G rs62471754 0.11370
NM_182961.4(SYNE1):c.24502G>T (p.Ala8168Ser) rs17082236 0.11250
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.10642
NM_018319.4(TDP1):c.400G>A (p.Ala134Thr) rs28365054 0.10566
NM_003383.5(VLDLR):c.*180G>A rs3421 0.10555
NM_182961.4(SYNE1):c.26221C>A (p.Leu8741Met) rs2295190 0.10350
NM_182961.4(SYNE1):c.8177+9C>T rs56877632 0.09596
NM_015046.7(SETX):c.*2262A>G rs997784 0.09345
NM_015046.7(SETX):c.6935+8T>C rs17148873 0.09319
NM_014053.4(FLVCR1):c.*1940G>A rs6697126 0.09080
NM_001386140.1(MTTP):c.294G>C (p.Glu98Asp) rs2306986 0.08726
NM_173500.4(TTBK2):c.-8G>A rs16957250 0.08720
NM_017791.3(FLVCR2):c.-71C>T rs11849590 0.08526
NM_014053.4(FLVCR1):c.*353A>G rs6679775 0.08452
NM_015046.7(SETX):c.7834A>G (p.Ser2612Gly) rs3739927 0.08329
NM_001386140.1(MTTP):c.497A>G (p.Asn166Ser) rs3792683 0.08314
NM_001386140.1(MTTP):c.*183C>T rs74542928 0.08278
NM_001386140.1(MTTP):c.*862C>A rs6832927 0.08274
NM_001386140.1(MTTP):c.*506A>G rs6832119 0.08272
NM_021830.5(TWNK):c.*521C>G rs11542131 0.08029
NM_001173990.3(TMEM216):c.-2G>T rs7107543 0.08005
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521 0.07946
NM_198994.3(TGM6):c.1093+5G>A rs6137891 0.07885
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_015046.7(SETX):c.3147C>T (p.His1049=) rs3739921 0.07515
NM_001386140.1(MTTP):c.39C>G (p.Ser13=) rs7667001 0.07507
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_001386140.1(MTTP):c.933C>A (p.Thr311=) rs17029213 0.07360
NM_001386140.1(MTTP):c.1769+9C>T rs34734558 0.07357
NM_182961.4(SYNE1):c.12363G>T (p.Lys4121Asn) rs28385621 0.07062
NM_015046.7(SETX):c.*1365G>T rs7875801 0.06684
NM_182961.4(SYNE1):c.3306C>T (p.His1102=) rs17082701 0.06632
NM_182961.4(SYNE1):c.14061G>C (p.Leu4687=) rs3734365 0.06565
NM_018319.4(TDP1):c.-21C>T rs34348197 0.06559
NM_000784.4(CYP27A1):c.438G>A (p.Pro146=) rs692003 0.06494
NM_022464.5(SIL1):c.-6C>G rs11555154 0.06144
NM_020247.5(COQ8A):c.*681G>A rs10482 0.06118
NM_002739.5(PRKCG):c.*428C>G rs57483118 0.06034
NM_182961.4(SYNE1):c.2653T>G (p.Leu885Val) rs17082709 0.06016
NM_018319.4(TDP1):c.*1448G>A rs34004710 0.05962
NM_018319.4(TDP1):c.*1452C>T rs34923595 0.05957
NM_018319.4(TDP1):c.*1460C>G rs35944390 0.05950
NM_018319.4(TDP1):c.1077A>G (p.Pro359=) rs17126522 0.05945
NM_001376.5(DYNC1H1):c.10950C>T (p.Asn3650=) rs17541505 0.05906
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) rs56389778 0.05750
NM_001378452.1(ITPR1):c.*777C>T rs41315884 0.05676
NM_001378452.1(ITPR1):c.*847G>A rs41304181 0.05655
NM_003383.5(VLDLR):c.175G>A (p.Val59Ile) rs6149 0.05632
NM_018075.5(ANO10):c.*432G>T rs17075612 0.05474
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_018319.4(TDP1):c.-224A>G rs35439694 0.05316
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_182961.4(SYNE1):c.26060C>T (p.Thr8687Ile) rs35591210 0.05093
NM_182961.4(SYNE1):c.8163C>T (p.Ser2721=) rs58905396 0.05078
NM_001386140.1(MTTP):c.285G>C (p.Gln95His) rs61733139 0.04959
NM_182961.4(SYNE1):c.10145+12T>C rs112401775 0.04924
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) rs17409162 0.04859
NM_001378452.1(ITPR1):c.1412+11C>T rs7632000 0.04752
NM_001376.5(DYNC1H1):c.*190A>G rs13901 0.04745
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys) rs3739922 0.04708
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_018319.4(TDP1):c.-177C>T rs35132667 0.04596
NM_182961.4(SYNE1):c.5190T>A (p.Asp1730Glu) rs111250109 0.04561
NM_003383.5(VLDLR):c.1458C>T (p.Ala486=) rs6143 0.04393
NM_015046.7(SETX):c.*717T>C rs17148857 0.04316
NM_001378615.1(CC2D2A):c.777C>T (p.His259=) rs2286976 0.04284
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_001376.5(DYNC1H1):c.13372+4C>T rs17541657 0.04171
NM_002222.6(ITPR1):c.*1385A>G rs9875113 0.04159
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411 0.04148
NM_002739.5(PRKCG):c.*596C>T rs60891969 0.04062
NM_182961.4(SYNE1):c.15597C>G (p.Ala5199=) rs9383987 0.04048
NM_001378452.1(ITPR1):c.1412+13G>A rs11920643 0.04035
NM_015046.7(SETX):c.*1700G>T rs75682594 0.03993
NM_198994.3(TGM6):c.477C>T (p.Ser159=) rs16984872 0.03978
NM_001386140.1(MTTP):c.1769+14C>T rs41275713 0.03960
NM_001386140.1(MTTP):c.730C>G (p.Gln244Glu) rs17599091 0.03958
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_182961.4(SYNE1):c.9954C>T (p.Ser3318=) rs73626656 0.03822
NM_001376.5(DYNC1H1):c.*232C>T rs17512996 0.03685
NM_001134831.2(AHI1):c.-299G>A rs113052089 0.03529
NM_018319.4(TDP1):c.1107T>C (p.Asn369=) rs10151377 0.03424
NM_182961.4(SYNE1):c.14917C>T (p.Leu4973=) rs35085679 0.03417
NM_182961.4(SYNE1):c.13221C>T (p.Asp4407=) rs10499268 0.03416
NM_002739.5(PRKCG):c.207C>T (p.Cys69=) rs307955 0.03300
NM_182961.4(SYNE1):c.22473G>A (p.Leu7491=) rs34891041 0.03277
NM_001378452.1(ITPR1):c.-81A>G rs13319720 0.03249
NM_002739.5(PRKCG):c.1497T>C (p.Phe499=) rs2242244 0.03204
NM_018319.4(TDP1):c.*393T>C rs7150480 0.03142
NM_033064.5(ATCAY):c.*1586T>C rs10411454 0.03139
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_033064.5(ATCAY):c.*806A>G rs73919392 0.03009
NM_173500.4(TTBK2):c.3251C>T (p.Thr1084Met) rs34348991 0.02971
NM_033064.5(ATCAY):c.*976C>G rs73919393 0.02901
NM_033064.5(ATCAY):c.*1542C>T rs10404967 0.02886
NM_198994.3(TGM6):c.422C>A (p.Ala141Glu) rs73894929 0.02857
NM_182961.4(SYNE1):c.12607G>A (p.Glu4203Lys) rs2130262 0.02821
NM_014053.4(FLVCR1):c.*1751C>T rs187971996 0.02794
NM_018075.5(ANO10):c.*196C>A rs73831274 0.02784
NM_014053.4(FLVCR1):c.1272T>C (p.Tyr424=) rs17677416 0.02755
NM_018075.5(ANO10):c.*444C>T rs114518528 0.02745
NM_001378452.1(ITPR1):c.*1156A>C rs73099961 0.02738
NM_182961.4(SYNE1):c.26002-4A>G rs77220999 0.02717
NM_182961.4(SYNE1):c.12138G>A (p.Gln4046=) rs60344647 0.02693
NM_182961.4(SYNE1):c.17339G>A (p.Arg5780Gln) rs76160752 0.02687
NM_182961.4(SYNE1):c.16277C>T (p.Thr5426Met) rs2306914 0.02635
NM_014053.4(FLVCR1):c.*377T>C rs41258034 0.02608
NM_182961.4(SYNE1):c.22452A>G (p.Ser7484=) rs36044575 0.02562
NM_022464.5(SIL1):c.1029+6T>C rs57028146 0.02536
NM_022464.5(SIL1):c.394A>C (p.Lys132Gln) rs61745568 0.02524
NM_182961.4(SYNE1):c.6470A>G (p.Lys2157Arg) rs75989452 0.02484
NM_001378452.1(ITPR1):c.*643A>T rs41305987 0.02460
NM_182961.4(SYNE1):c.7556+14A>G rs78034368 0.02406
NM_001378452.1(ITPR1):c.*47G>C rs74998763 0.02401
NM_001378452.1(ITPR1):c.*48T>G rs77764633 0.02400
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761 0.02399
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_003383.5(VLDLR):c.24G>A (p.Ala8=) rs34336270 0.02372
NM_001386140.1(MTTP):c.*113G>C rs112407688 0.02360
NM_001386140.1(MTTP):c.1981G>A (p.Gly661Ser) rs113337987 0.02355
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=) rs113557405 0.02353
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435 0.02349
NM_018075.5(ANO10):c.486C>T (p.Leu162=) rs34829628 0.02348
NM_006796.3(AFG3L2):c.1026+8G>A rs8091858 0.02347
NM_014053.4(FLVCR1):c.*891A>G rs41301029 0.02342
NM_024411.5(PDYN):c.*369A>G rs73894108 0.02261
NM_001173990.3(TMEM216):c.*444T>C rs116047887 0.02253
NM_002739.5(PRKCG):c.1404C>G (p.Leu468=) rs35079513 0.02248
NM_182961.4(SYNE1):c.*583A>G rs3756933 0.02216
NM_033064.5(ATCAY):c.*1036G>C rs73919394 0.02206
NM_182961.4(SYNE1):c.12442G>C (p.Asp4148His) rs117501809 0.02182
NM_182961.4(SYNE1):c.2527C>T (p.Arg843Cys) rs34610829 0.02158
NM_182961.4(SYNE1):c.11621A>C (p.Lys3874Thr) rs13210127 0.02151
NM_015046.7(SETX):c.*561A>C rs73661150 0.02138
NM_182961.4(SYNE1):c.3960A>G (p.Thr1320=) rs138705766 0.02134
NM_004115.4(FGF14):c.*471A>C rs75498912 0.02130
NM_018718.3(CEP41):c.*927T>C rs73152870 0.02074
NM_024411.5(PDYN):c.*556C>T rs73571349 0.02074
NM_001378452.1(ITPR1):c.6696A>G (p.Lys2232=) rs34491089 0.02052
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_018319.4(TDP1):c.*539G>A rs35090050 0.02032
NM_014053.4(FLVCR1):c.*855T>C rs564661630 0.01999
NM_033064.5(ATCAY):c.*507G>C rs116813246 0.01949
NM_001044385.3(TMEM237):c.395+7A>G rs78297522 0.01932
NM_017791.3(FLVCR2):c.*991T>C rs117346030 0.01931
NM_024411.5(PDYN):c.*138A>G rs111525766 0.01924
NM_006796.3(AFG3L2):c.*2G>A rs113981080 0.01903
NM_018075.5(ANO10):c.788G>A (p.Arg263His) rs41289586 0.01896
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221 0.01861
NM_015046.7(SETX):c.6106+14G>A rs73661157 0.01840
NM_004115.4(FGF14):c.*1063G>A rs58555898 0.01834
NM_017791.3(FLVCR2):c.*1040C>T rs8017131 0.01752
NM_017791.3(FLVCR2):c.1441G>A (p.Ala481Thr) rs35126362 0.01730
NM_001386140.1(MTTP):c.*279C>G rs115807483 0.01703
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875 0.01691
NM_182961.4(SYNE1):c.20571A>T (p.Ser6857=) rs34905593 0.01683
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_033064.5(ATCAY):c.*2026G>A rs147402942 0.01676
NM_018319.4(TDP1):c.-230-4G>T rs28365053 0.01666
NM_015046.7(SETX):c.*1052T>A rs12349210 0.01647
NM_015046.7(SETX):c.*1288T>C rs72765812 0.01645
NM_000784.4(CYP27A1):c.888A>G (p.Gln296=) rs61733619 0.01643
NM_001376.5(DYNC1H1):c.3993C>T (p.Gly1331=) rs17540957 0.01643
NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=) rs17082422 0.01643
NM_001134831.2(AHI1):c.2624-6A>G rs41288015 0.01635
NM_033064.5(ATCAY):c.*1423T>A rs184437292 0.01635
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_182961.4(SYNE1):c.19989T>C (p.His6663=) rs61746395 0.01595
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu) rs12352982 0.01591
NM_015046.7(SETX):c.*849G>T rs74975459 0.01559
NM_182961.4(SYNE1):c.8336T>G (p.Ile2779Ser) rs77121899 0.01555
NM_017791.3(FLVCR2):c.*1098C>A rs8017287 0.01484
NM_001376.5(DYNC1H1):c.3909G>A (p.Ala1303=) rs34690489 0.01481
NM_015046.7(SETX):c.*1224G>C rs10491906 0.01458
NM_033064.5(ATCAY):c.*1235T>C rs148116098 0.01449
NM_001376.5(DYNC1H1):c.6221+13G>T rs17541088 0.01447
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
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_020247.5(COQ8A):c.-10+8T>C rs145688619 0.01402
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_018718.3(CEP41):c.*3507C>T rs149385617 0.01355
NM_182961.4(SYNE1):c.22809C>T (p.Leu7603=) rs34630198 0.01334
NM_021830.5(TWNK):c.*204G>A rs61871507 0.01328
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NM_000370.3(TTPA):c.*1404G>A rs56675911 0.01322
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_015046.7(SETX):c.6507G>A (p.Gly2169=) rs34073320 0.01300
NM_182961.4(SYNE1):c.10207G>A (p.Gly3403Ser) rs116758271 0.01300
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709 0.01280
NM_018718.3(CEP41):c.*3765G>T rs138768326 0.01276
NM_182961.4(SYNE1):c.10598G>A (p.Arg3533His) rs145911138 0.01237
NM_015046.7(SETX):c.*351G>T rs117409290 0.01236
NM_001044385.3(TMEM237):c.-12G>A rs113186360 0.01229
NM_018075.5(ANO10):c.627T>C (p.Ala209=) rs61742945 0.01193
NM_182961.4(SYNE1):c.22516A>G (p.Ser7506Gly) rs35763277 0.01174
NM_020247.5(COQ8A):c.*133G>A rs149820067 0.01173
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_033064.5(ATCAY):c.*1190G>A rs143684746 0.01134
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_033064.5(ATCAY):c.866+6A>G rs116660680 0.01088
NM_182961.4(SYNE1):c.10522T>C (p.Leu3508=) rs62426382 0.01086
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530 0.01078
NM_015046.7(SETX):c.*548A>T rs139883935 0.01078
NM_033064.5(ATCAY):c.810C>T (p.Ile270=) rs61746441 0.01075
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555 0.01070
NM_001378452.1(ITPR1):c.2305A>G (p.Met769Val) rs35789999 0.01046
NM_018319.4(TDP1):c.*799A>G rs35437984 0.01042
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_182961.4(SYNE1):c.402+11A>G rs80276170 0.01033
NM_018718.3(CEP41):c.*3783T>C rs117071818 0.01015
NM_004115.4(FGF14):c.*31G>A rs149661933 0.01007
NM_173500.4(TTBK2):c.2592A>G (p.Glu864=) rs56307230 0.01001
NM_033064.5(ATCAY):c.*2514A>G rs142048723 0.00992
NM_024411.5(PDYN):c.*1029A>G rs115095625 0.00982
NM_017791.3(FLVCR2):c.-111T>C rs80001297 0.00973
NM_182961.4(SYNE1):c.23743G>A (p.Asp7915Asn) rs76699382 0.00969
NM_182961.4(SYNE1):c.18801C>T (p.Thr6267=) rs116007471 0.00967
NM_001376.5(DYNC1H1):c.12159A>T (p.Gly4053=) rs115992196 0.00962
NM_015046.7(SETX):c.-124C>T rs114850064 0.00959
NM_001376.5(DYNC1H1):c.7137G>A (p.Leu2379=) rs17512439 0.00956
NM_182961.4(SYNE1):c.5429C>T (p.Ala1810Val) rs76393834 0.00944
NM_173500.4(TTBK2):c.*1162T>A rs79592696 0.00943
NM_014053.4(FLVCR1):c.*1544A>G rs6685793 0.00936
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472 0.00935
NM_016464.5(TMEM138):c.-24G>A rs116455434 0.00930
NM_001378452.1(ITPR1):c.2433T>A (p.Ile811=) rs145220403 0.00924
NM_033064.5(ATCAY):c.*486A>C rs115839391 0.00924
NM_018075.5(ANO10):c.-90C>T rs565644253 0.00916
NM_033064.5(ATCAY):c.*3154C>T rs116311313 0.00916
NM_182961.4(SYNE1):c.12057G>A (p.Ala4019=) rs144596829 0.00916
NM_006796.3(AFG3L2):c.*109A>C rs114203162 0.00915
NM_182961.4(SYNE1):c.3804G>A (p.Leu1268=) rs139524103 0.00909
NM_182961.4(SYNE1):c.9165C>A (p.Ser3055=) rs117020413 0.00908
NM_182961.4(SYNE1):c.26209G>A (p.Gly8737Ser) rs2295191 0.00898
NM_001378452.1(ITPR1):c.3327+12C>T rs116022052 0.00894
NM_002739.5(PRKCG):c.*199C>T rs114091656 0.00888
NM_182961.4(SYNE1):c.10827A>C (p.Gln3609His) rs79486252 0.00887
NM_001044385.3(TMEM237):c.*1489G>C rs78220061 0.00855
NM_020247.5(COQ8A):c.*790A>G rs12565212 0.00855
NM_017791.3(FLVCR2):c.835C>T (p.Pro279Ser) rs45479302 0.00830
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
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_182961.4(SYNE1):c.12079-12G>T rs73783853 0.00771
NM_024411.5(PDYN):c.*356T>C rs114429882 0.00768
NM_001044385.3(TMEM237):c.75-13T>C rs116829037 0.00764
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_182961.4(SYNE1):c.156T>C (p.Asp52=) rs139156106 0.00761
NM_001378452.1(ITPR1):c.2204+13C>T rs141519515 0.00759
NM_024411.5(PDYN):c.575A>T (p.Glu192Val) rs45469293 0.00742
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428 0.00732
NM_033064.5(ATCAY):c.*2394C>T rs10406812 0.00732
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_000370.3(TTPA):c.*782C>T rs114278576 0.00716
NM_004115.4(FGF14):c.*744C>A rs79379700 0.00714
NM_006946.4(SPTBN2):c.4985+11C>T rs11227572 0.00707
NM_022464.5(SIL1):c.239A>G (p.Gln80Arg) rs35581768 0.00706
NM_198994.3(TGM6):c.1126G>A (p.Ala376Thr) rs79724097 0.00706
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_024411.5(PDYN):c.436A>C (p.Met146Leu) rs77155664 0.00698
NM_001386140.1(MTTP):c.*267A>C rs79992570 0.00692
NM_033064.5(ATCAY):c.*1180C>T rs140608538 0.00683
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_182961.4(SYNE1):c.13986G>A (p.Lys4662=) rs17082484 0.00664
NM_020247.5(COQ8A):c.*727C>T rs16846762 0.00659
NM_020247.5(COQ8A):c.655+9G>A rs146526153 0.00658
NM_182961.4(SYNE1):c.16129A>C (p.Met5377Leu) rs35987150 0.00658
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_182961.4(SYNE1):c.9764C>T (p.Ser3255Leu) rs114954026 0.00650
NM_182961.4(SYNE1):c.14107G>A (p.Asp4703Asn) rs116000545 0.00649
NM_003383.5(VLDLR):c.449-12C>T rs73640152 0.00648
NM_024411.5(PDYN):c.*1443G>A rs148395893 0.00643
NM_018319.4(TDP1):c.911G>A (p.Arg304Gln) rs34452707 0.00640
NM_018319.4(TDP1):c.1098A>G (p.Gln366=) rs34563565 0.00639
NM_198994.3(TGM6):c.1656C>T (p.Ala552=) rs75601099 0.00634
NM_182961.4(SYNE1):c.3890C>T (p.Ala1297Val) rs35378260 0.00633
NM_001386140.1(MTTP):c.*588A>G rs184236038 0.00619
NM_006796.3(AFG3L2):c.-71C>T rs571340907 0.00605
NM_015046.7(SETX):c.59G>A (p.Arg20His) rs79740039 0.00602
NM_182961.4(SYNE1):c.15313G>A (p.Asp5105Asn) rs35493783 0.00602
NM_022464.5(SIL1):c.454-6C>T rs58624842 0.00601
NM_014053.4(FLVCR1):c.*500G>A rs41301023 0.00597
NM_182961.4(SYNE1):c.19698G>T (p.Met6566Ile) rs35654757 0.00596
NM_182961.4(SYNE1):c.4757C>A (p.Thr1586Lys) rs77675624 0.00591
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_033064.5(ATCAY):c.*7G>A rs60814801 0.00577
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_182961.4(SYNE1):c.22281C>A (p.Ile7427=) rs139362680 0.00566
NM_004115.4(FGF14):c.*554G>A rs141793298 0.00557
NM_017791.3(FLVCR2):c.*573C>T rs116699854 0.00556
NM_017791.3(FLVCR2):c.953-14G>A rs115200097 0.00554
NM_001376.5(DYNC1H1):c.7410G>A (p.Ala2470=) rs139109090 0.00548
NM_018319.4(TDP1):c.*1105A>G rs34815305 0.00542
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154 0.00537
NM_182961.4(SYNE1):c.9890C>T (p.Thr3297Met) rs150912982 0.00528
NM_001386140.1(MTTP):c.*796C>T rs551084925 0.00527
NM_006946.4(SPTBN2):c.6723-14C>T rs186232313 0.00525
NM_003383.5(VLDLR):c.2041C>T (p.Leu681=) rs79720897 0.00518
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
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_014053.4(FLVCR1):c.*3241C>T rs113198161 0.00493
NM_015046.7(SETX):c.4755T>G (p.Pro1585=) rs151237267 0.00484
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_017791.3(FLVCR2):c.*254T>C rs115212564 0.00463
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_015046.7(SETX):c.*475A>C rs60760878 0.00452
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_182961.4(SYNE1):c.-391-9T>C rs138926036 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_182961.4(SYNE1):c.9542G>A (p.Ser3181Asn) rs140508714 0.00431
NM_018319.4(TDP1):c.*598G>A rs34083314 0.00430
NM_018319.4(TDP1):c.1317+11G>A rs36009827 0.00423
NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala) rs35973343 0.00413
NM_015046.7(SETX):c.3663G>C (p.Lys1221Asn) rs12344006 0.00412
NM_182961.4(SYNE1):c.2220G>A (p.Met740Ile) rs146001055 0.00412
NM_022464.5(SIL1):c.900C>T (p.Phe300=) rs35080367 0.00410
NM_198994.3(TGM6):c.1235G>A (p.Arg412His) rs142679146 0.00410
NM_015046.7(SETX):c.7371T>C (p.His2457=) rs113071480 0.00399
NM_014053.4(FLVCR1):c.*1317A>G rs145011972 0.00394
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile) rs41289628 0.00391
NM_001386140.1(MTTP):c.2043G>A (p.Glu681=) rs145444300 0.00389
NM_001376.5(DYNC1H1):c.4854T>C (p.Tyr1618=) rs75094258 0.00381
NM_182961.4(SYNE1):c.6135T>G (p.Ile2045Met) rs116600265 0.00379
NM_198994.3(TGM6):c.1580T>A (p.Val527Glu) rs61729226 0.00370
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_198994.3(TGM6):c.481A>G (p.Ser161Gly) rs141930579 0.00348
NM_001376.5(DYNC1H1):c.13219-9C>T rs17541650 0.00332
NM_014053.4(FLVCR1):c.*3032G>T rs76321605 0.00330
NM_182961.4(SYNE1):c.17542-14A>G rs111686341 0.00330
NM_001376.5(DYNC1H1):c.8886+13G>A rs17541317 0.00322
NM_014053.4(FLVCR1):c.*2540T>C rs79275553 0.00322
NM_033064.4(ATCAY):c.-390A>G rs140876148 0.00318
NM_018718.3(CEP41):c.*2482A>T rs189091601 0.00317
NM_001378452.1(ITPR1):c.6117G>A (p.Ala2039=) rs139528715 0.00306
NM_000370.3(TTPA):c.664-4T>G rs2045224 0.00304
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_001271696.3(ABCB7):c.938G>A (p.Arg313Gln) rs147584361 0.00272
NM_173500.4(TTBK2):c.2210T>C (p.Ile737Thr) rs146515654 0.00267
NM_014053.4(FLVCR1):c.937G>A (p.Asp313Asn) rs139175550 0.00251
NM_001378452.1(ITPR1):c.3894C>T (p.Asn1298=) rs182840163 0.00248
NM_198994.3(TGM6):c.*87C>A rs45544131 0.00240
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu) rs139790539 0.00237
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_001271696.3(ABCB7):c.1492G>A (p.Gly498Arg) rs151288786 0.00187
NM_018718.3(CEP41):c.*655C>T rs141441037 0.00185
NM_006796.3(AFG3L2):c.1664-9T>C rs200476229 0.00182
NM_001378452.1(ITPR1):c.*1196T>C rs565045968 0.00178
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn) rs150673589 0.00178
NM_018319.4(TDP1):c.1165G>A (p.Ala389Thr) rs138044459 0.00178
NM_001376.5(DYNC1H1):c.7239G>T (p.Leu2413=) rs138407720 0.00175
NM_000370.3(TTPA):c.24C>G (p.Pro8=) rs140010311 0.00172
NM_173500.4(TTBK2):c.1059C>T (p.Ser353=) rs200405805 0.00172
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) rs61733140 0.00170
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_020247.5(COQ8A):c.*230G>A rs117808661 0.00143
NM_173500.4(TTBK2):c.*581A>T rs575564250 0.00142
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=) rs56043893 0.00141
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490 0.00140
NM_033064.5(ATCAY):c.*1653G>T rs543950349 0.00140
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_001044385.3(TMEM237):c.*564T>C rs141560423 0.00113
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=) rs142527379 0.00107
NM_182961.4(SYNE1):c.13636G>A (p.Val4546Ile) rs4870093 0.00106
NM_182961.4(SYNE1):c.21523-8T>G rs187773880 0.00106
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_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251 0.00089
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_014053.4(FLVCR1):c.*279T>C rs17019875 0.00084
NM_018718.3(CEP41):c.*3856C>T rs187532705 0.00082
NM_182961.4(SYNE1):c.11196T>C (p.Ala3732=) rs138528119 0.00081
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_182961.4(SYNE1):c.14163C>T (p.Asp4721=) rs3734366 0.00073
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr) rs201144431 0.00071
NM_033064.5(ATCAY):c.-241C>T rs376727951 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_014053.4(FLVCR1):c.*2443C>T rs117380165 0.00056
NM_001378452.1(ITPR1):c.*121G>C rs146903558 0.00055
NM_182961.4(SYNE1):c.2697A>G (p.Arg899=) rs75817012 0.00053
NM_014053.4(FLVCR1):c.*1920T>A rs115914498 0.00052
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511 0.00052
NM_001378452.1(ITPR1):c.3945T>C (p.Asn1315=) rs193212750 0.00051
NM_018718.3(CEP41):c.*4595G>A rs117814753 0.00046
NM_182961.4(SYNE1):c.7713-12C>T rs550804556 0.00046
NM_002222.6(ITPR1):c.*1533G>A rs377290142 0.00044
NM_004115.4(FGF14):c.*176C>G rs191705440 0.00039
NM_182961.4(SYNE1):c.19692+3G>A rs150304757 0.00039
NM_182961.4(SYNE1):c.6889G>A (p.Gly2297Arg) rs117184249 0.00039
NM_182961.4(SYNE1):c.7854C>T (p.Ser2618=) rs79449810 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_182961.4(SYNE1):c.25146C>T (p.Ser8382=) rs151034170 0.00026
NM_198994.3(TGM6):c.1171G>A (p.Val391Met) rs116904482 0.00026
NM_182961.4(SYNE1):c.1838C>T (p.Ser613Phe) rs140135976 0.00025
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_017791.3(FLVCR2):c.*910C>A rs549933844 0.00021
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_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr) rs76626268 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_182961.4(SYNE1):c.2395G>A (p.Val799Ile) rs199670962 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_014053.4(FLVCR1):c.*3264T>C rs374214375 0.00005
NM_182961.4(SYNE1):c.1113A>G (p.Pro371=) rs374376301 0.00005
NM_182961.4(SYNE1):c.12565G>A (p.Val4189Met) rs148204741 0.00005
NM_198994.3(TGM6):c.883G>A (p.Val295Met) rs200341133 0.00005
NM_001271696.3(ABCB7):c.211A>G (p.Lys71Glu) rs201842753 0.00004
NM_001378452.1(ITPR1):c.6808+8C>G rs2270749 0.00004
NM_182961.4(SYNE1):c.4610G>A (p.Arg1537Gln) rs369775705 0.00004
NM_198994.3(TGM6):c.992A>G (p.Asn331Ser) rs138323389 0.00004
NM_001173990.3(TMEM216):c.*303C>T rs144613667 0.00003
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_182961.4(SYNE1):c.11238A>G (p.Lys3746=) rs149393972 0.00001
NM_182961.4(SYNE1):c.4889C>T (p.Ala1630Val) rs566004273 0.00001
NM_000370.3(TTPA):c.*576_*578del rs10543235
NM_000370.3(TTPA):c.359-3del rs398123340
NM_000784.3(CYP27A1):c.-357dup rs397795841
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001195248.2(APTX):c.484-25_484-5del rs200922655
NM_001195248.2(APTX):c.771-20dup rs34600530
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_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_002222.6(ITPR1):c.*1531G>T rs9817206
NM_003383.5(VLDLR):c.-113C>G rs34433332
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_014053.4(FLVCR1):c.*1880TAAA[7] rs141272551
NM_014053.4(FLVCR1):c.*2061CA[12] rs139242973
NM_014053.4(FLVCR1):c.*3130_*3131insAATT rs10655434
NM_014053.4(FLVCR1):c.*3482C>G rs12142813
NM_015046.7(SETX):c.*1148T>G rs138991890
NM_015046.7(SETX):c.*1368G>A rs7025
NM_015046.7(SETX):c.*1370G>C rs116822064
NM_017791.3(FLVCR2):c.543G>A (p.Val181=) rs2287016
NM_018319.3(TDP1):c.-276_-274dupCCG rs35210768
NM_018319.4(TDP1):c.*608del rs397897279
NM_020247.4(COQ8A):c.*807_*808insT rs3215920
NM_020247.5(COQ8A):c.*389dup rs11420839
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_024411.5(PDYN):c.*1394C>A rs112661575
NM_024411.5(PDYN):c.*771T>C rs910079
NM_033064.5(ATCAY):c.*1540C>A rs140917952
NM_033064.5(ATCAY):c.*193del rs796133913
NM_033064.5(ATCAY):c.*2497C>T rs143923838
NM_173500.4(TTBK2):c.1499G>C (p.Arg500Pro) rs56039839
NM_182961.4(SYNE1):c.*666_*667del rs71660056
NM_182961.4(SYNE1):c.11581-15dup rs5880967
NM_182961.4(SYNE1):c.24225A>G (p.Ala8075=) rs910415
NM_182961.4(SYNE1):c.26204G>A (p.Arg8735Gln) rs2295192
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=) rs6913579
NM_198994.3(TGM6):c.-36T>C rs371018532
NM_198994.3(TGM6):c.1198A>G (p.Ile400Val) rs552530897

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