ClinVar Miner

List of variants reported as pathogenic for cerebellar degeneration by OMIM

Included ClinVar conditions (270):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 474
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HGVS dbSNP gnomAD frequency
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068 0.00859
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_001379286.1(ZNF423):c.2762C>T (p.Pro921Leu) rs200585917 0.00023
NM_014396.4(VPS41):c.1984C>T (p.Arg662Ter) rs199716160 0.00021
NM_001349232.2(ATG7):c.1975C>T (p.Arg659Ter) rs201706487 0.00017
NM_006793.5(PRDX3):c.604G>A (p.Asp202Asn) rs548327727 0.00017
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102 0.00013
NM_014889.4(PITRM1):c.2792C>T (p.Thr931Met) rs187308159 0.00012
NM_017872.5(THG1L):c.164T>C (p.Val55Ala) rs201920319 0.00012
NM_001080414.4(CCDC88C):c.1391G>A (p.Arg464His) rs587782989 0.00011
NM_198994.3(TGM6):c.980A>G (p.Asp327Gly) rs387907098 0.00010
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_153704.6(TMEM67):c.2498T>C (p.Ile833Thr) rs267607119 0.00009
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
NM_001163809.2(WDR81):c.2567C>T (p.Pro856Leu) rs587776906 0.00007
NM_006793.5(PRDX3):c.425C>G (p.Ala142Gly) rs202061531 0.00007
NM_018294.6(CWF19L1):c.964+1G>A rs587780326 0.00007
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_001378615.1(CC2D2A):c.3347C>T (p.Thr1116Met) rs267606709 0.00006
NM_017686.4(GDAP2):c.946C>T (p.Gln316Ter) rs752352896 0.00006
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser) rs119468009 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097 0.00006
NM_001114748.2(TMEM240):c.346C>T (p.Arg116Cys) rs606231453 0.00005
NM_198994.3(TGM6):c.1528G>C (p.Asp510His) rs201964784 0.00005
NM_000144.5(FXN):c.389G>T (p.Gly130Val) rs104894107 0.00004
NM_000784.4(CYP27A1):c.845-1G>A rs397515353 0.00004
NM_001077418.3(TMEM231):c.625G>A (p.Asp209Asn) rs200799769 0.00004
NM_001349232.2(ATG7):c.2080-2A>G rs200074530 0.00004
NM_001382391.1(CSPP1):c.2335C>T (p.Arg779Ter) rs587777138 0.00004
NM_001382391.1(CSPP1):c.631C>T (p.Arg211Ter) rs375113643 0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) rs199422220 0.00004
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter) rs146064714 0.00004
NM_006793.5(PRDX3):c.43C>T (p.Arg15Ter) rs371560438 0.00004
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp) rs786203983 0.00004
NM_182961.4(SYNE1):c.15918-12A>G rs606231134 0.00004
NM_198994.3(TGM6):c.331C>T (p.Arg111Cys) rs372250159 0.00004
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355 0.00003
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln) rs121908097 0.00003
NM_001077416.2(TMEM231):c.74T>A (p.Met25Lys) rs397514609 0.00003
NM_001114748.2(TMEM240):c.239C>T (p.Thr80Met) rs606231454 0.00003
NM_001134831.2(AHI1):c.2168G>A (p.Arg723Gln) rs121434351 0.00003
NM_001349232.2(ATG7):c.1727G>A (p.Arg576His) rs142493104 0.00003
NM_006297.3(XRCC1):c.1293G>C (p.Lys431Asn) rs761564262 0.00003
NM_014053.4(FLVCR1):c.361A>G (p.Asn121Asp) rs267606820 0.00003
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg) rs267606821 0.00003
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) rs121434379 0.00003
NM_016614.3(TDP2):c.425+1G>A rs372245668 0.00003
NM_018075.5(ANO10):c.1529T>G (p.Leu510Arg) rs387907089 0.00003
NM_001044385.3(TMEM237):c.943+1G>T rs748510210 0.00002
NM_001114748.2(TMEM240):c.511C>T (p.Arg171Trp) rs606231455 0.00002
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118 0.00002
NM_018319.4(TDP1):c.1478A>G (p.His493Arg) rs119467003 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_032856.5(WDR73):c.703C>T (p.Gln235Ter) rs797044992 0.00002
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000144.5(FXN):c.3G>T (p.Met1Ile) rs104894108 0.00001
NM_000384.3(APOB):c.11712del (p.Asn3904fs) rs587776852 0.00001
NM_000384.3(APOB):c.6253C>T (p.Arg2085Ter) rs121918386 0.00001
NM_000384.3(APOB):c.7564C>T (p.Arg2522Ter) rs121918390 0.00001
NM_000391.4(TPP1):c.1397T>G (p.Val466Gly) rs398122959 0.00001
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099 0.00001
NM_000784.4(CYP27A1):c.1420C>T (p.Arg474Trp) rs121908098 0.00001
NM_001020658.2(PUM1):c.3103A>T (p.Thr1035Ser) rs771145682 0.00001
NM_001130698.2(TRPC3):c.2285G>A (p.Arg762His) rs142339351 0.00001
NM_001134831.2(AHI1):c.1484G>A (p.Arg495His) rs387907003 0.00001
NM_001134831.2(AHI1):c.1765C>T (p.Arg589Ter) rs267606641 0.00001
NM_001134831.2(AHI1):c.985C>T (p.Arg329Ter) rs201391050 0.00001
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter) rs138358708 0.00001
NM_001329943.3(KIAA0586):c.1656G>A (p.Gln552=) rs762081862 0.00001
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter) rs118204053 0.00001
NM_001378615.1(CC2D2A):c.4582C>T (p.Arg1528Cys) rs118204052 0.00001
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter) rs199422219 0.00001
NM_001386140.1(MTTP):c.1867+5G>A rs1429774833 0.00001
NM_001447.3(FAT2):c.10758G>C (p.Lys3586Asn) rs770597316 0.00001
NM_001447.3(FAT2):c.10946G>A (p.Arg3649Gln) rs201335279 0.00001
NM_002522.4(NPTX1):c.1165G>A (p.Gly389Arg) rs1466750124 0.00001
NM_004056.6(CA8):c.710G>A (p.Arg237Gln) rs387906598 0.00001
NM_005861.4(STUB1):c.719T>C (p.Met240Thr) rs587777345 0.00001
NM_005861.4(STUB1):c.823_824del (p.Leu275fs) rs748984540 0.00001
NM_006796.3(AFG3L2):c.2105G>A (p.Arg702Gln) rs151344523 0.00001
NM_012268.4(PLD3):c.923T>C (p.Leu308Pro) rs537053537 0.00001
NM_014053.4(FLVCR1):c.3G>T (p.Met1Ile) rs899735028 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_014396.4(VPS41):c.1423-2A>G rs1220530084 0.00001
NM_014396.4(VPS41):c.853T>C (p.Ser285Pro) rs544223875 0.00001
NM_014889.4(PITRM1):c.548G>A (p.Arg183Gln) rs1249144069 0.00001
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter) rs121434376 0.00001
NM_015046.7(SETX):c.5929C>T (p.Leu1977Phe) rs121434380 0.00001
NM_015046.7(SETX):c.994C>T (p.Arg332Trp) rs29001665 0.00001
NM_015160.3(PMPCA):c.1543G>A (p.Gly515Arg) rs869025293 0.00001
NM_015160.3(PMPCA):c.766G>A (p.Val256Met) rs746549806 0.00001
NM_015272.5(RPGRIP1L):c.2413C>T (p.Arg805Ter) rs145665129 0.00001
NM_015378.4(VPS13D):c.12629C>T (p.Ala4210Val) rs746736545 0.00001
NM_016464.5(TMEM138):c.128+5G>A rs917404097 0.00001
NM_016529.6(ATP8A2):c.1741C>T (p.Arg581Ter) rs1304109530 0.00001
NM_017686.4(GDAP2):c.1198_1199insG (p.His400fs) rs547792505 0.00001
NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys) rs119468008 0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp) rs119468005 0.00001
NM_020680.4(SCYL1):c.1230+1G>A rs864309666 0.00001
NM_020680.4(SCYL1):c.1636C>T (p.Gln546Ter) rs864309667 0.00001
NM_020680.4(SCYL1):c.314C>T (p.Ala105Val) rs942522644 0.00001
NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile) rs80356544 0.00001
NM_021830.5(TWNK):c.952G>A (p.Ala318Thr) rs80356542 0.00001
NM_023077.3(COA7):c.410A>G (p.Tyr137Cys) rs961876891 0.00001
NM_024411.5(PDYN):c.632T>C (p.Leu211Ser) rs267606940 0.00001
NM_024411.5(PDYN):c.634C>T (p.Arg212Trp) rs201486601 0.00001
NM_024411.5(PDYN):c.643C>T (p.Arg215Cys) rs267606939 0.00001
NM_144992.5(VWA3B):c.1865A>C (p.Lys622Thr) rs876657414 0.00001
NM_152617.4(RNF168):c.391C>T (p.Arg131Ter) rs201915239 0.00001
NM_153704.6(TMEM67):c.1769T>C (p.Phe590Ser) rs267607115 0.00001
NM_153704.6(TMEM67):c.312+5G>A rs786200868 0.00001
NM_153816.6(SNX14):c.1132C>T (p.Arg378Ter) rs786205229 0.00001
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) rs774694340 0.00001
NM_182961.4(SYNE1):c.10768C>T (p.Arg3590Ter) rs606231292 0.00001
NM_182961.4(SYNE1):c.21148C>T (p.Arg7050Ter) rs763325410 0.00001
NM_182961.4(SYNE1):c.8695A>T (p.Arg2899Ter) rs119103243 0.00001
APOB, 1-BP DEL, 4432T
APOB, EX21DEL
NC_000001.10:g.57832716_57832797ins[(ATTTT)60-79(ATTTC)31-75(ATTTT)58-90]
NC_000001.10:g.6882372_7422115dup
NC_000001.10:g.7119268_7200395del
NC_000001.9:g.6777038_6826186del
NC_000002.12:g.21004453del rs387906569
NC_000003.12:g.(4480596_4480597)_(4793914_4793915)del
NC_000004.12:g.39348425AAAGG[10_25]AAGGG[n]
NC_000004.12:g.39348425AARRG[(400_2000)]
NC_000004.12:g.92491792_92826931del
NC_000004.12:g.92559959_92610106del
NC_000004.12:g.93013415_93157863del
NG_008047.1:g.17267CAG[(54-68)]
NG_008165.1:g.12526CAR[46_?]
NG_008227.1:g.53130CAG[38_130]
NG_008317.3:g.245717TTC[250_?]
NG_008845.2:g.6725GAA[(200_900)]
NG_012741.1:g.(?_5001)_(37693_?)del
NG_021403.2:g.68486_68487insN[2500_3800]
NM_000051.3(ATM):c.2839-579_2839-576del rs587776552
NM_000051.4(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) rs587776549
NM_000051.4(ATM):c.4776+2T>C rs587781927
NM_000051.4(ATM):c.7279_7284del (p.Leu2427_Arg2428del) rs796051856
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter) rs121434220
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000051.4(ATM):c.7988_7991del (p.Val2663fs) rs587776550
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del) rs786203976
NM_000144.5(FXN):c.157del (p.Arg53fs) rs141935559
NM_000144.5(FXN):c.317T>G (p.Leu106Ter) rs104894105
NM_000144.5(FXN):c.371_376delinsTACACCTTGAGGACA (p.Asp124_Ser126delinsValHisLeuGluAspThr) rs886037630
NM_000144.5(FXN):c.385-2A>G rs140987490
NM_000144.5(FXN):c.460A>T (p.Ile154Phe) rs104894106
NM_000332.4(ATXN1):c.589CAG[36_38] (p.Gln208[36_38]) rs193922926
NM_000384.3(APOB):c.12181del (p.Glu4061fs) rs121918385
NM_000384.3(APOB):c.3997C>T (p.Arg1333Ter) rs121918383
NM_000384.3(APOB):c.4352del (p.Gly1451fs) rs397514256
NM_000384.3(APOB):c.4429C>T (p.Gln1477Ter) rs121918389
NM_000384.3(APOB):c.5263_5266del (p.Asn1755fs) rs281865425
NM_000384.3(APOB):c.5463del (p.His1822fs) rs397514255
NM_000384.3(APOB):c.5566_5567del (p.Val1856fs) rs121918384
NM_000384.3(APOB):c.819-2A>G rs1572800245
NM_000384.3(APOB):c.905-1_905dup rs606231236
NM_000384.3(APOB):c.9200del (p.Lys3067fs) rs121918387
NM_000391.4(TPP1):c.1029G>C (p.Glu343Asp) rs886037833
NM_000784.4(CYP27A1):c.1183C>A (p.Arg395Ser) rs121908096
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly) rs72551322
NM_000784.4(CYP27A1):c.1435C>T (p.Arg479Cys) rs72551322
NM_000784.4(CYP27A1):c.434G>A (p.Gly145Glu) rs72551313
NM_000784.4(CYP27A1):c.844+1G>A rs397515354
NM_000784.4(CYP27A1):c.944_948del (p.Leu315fs) rs397515356
NM_001001344.3(ATP2B3):c.3320G>A (p.Gly1107Asp) rs397514619
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs) rs751952525
NM_001044385.3(TMEM237):c.677+1G>T rs793888505
NM_001044385.3(TMEM237):c.76C>T (p.Gln26Ter) rs387907131
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001114748.2(TMEM240):c.489C>G (p.Tyr163Ter) rs606231452
NM_001114748.2(TMEM240):c.509C>T (p.Pro170Leu) rs606231451
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln) rs121908217
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr) rs121909326
NM_001127222.2(CACNA1A):c.6937CAG[(21_30)]
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) rs121908215
NM_001130823.3(DNMT1):c.1709C>T (p.Ala570Val) rs397509392
NM_001130823.3(DNMT1):c.1814G>C (p.Gly605Ala) rs397509393
NM_001130823.3(DNMT1):c.1816G>T (p.Val606Phe) rs397509391
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter) rs121434348
NM_001134831.2(AHI1):c.1052G>T (p.Arg351Leu) rs397514726
NM_001134831.2(AHI1):c.1303C>T (p.Arg435Ter) rs121434349
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp) rs121434350
NM_001134831.2(AHI1):c.2282C>T (p.Ser761Leu) rs794727174
NM_001134831.2(AHI1):c.2368_2369insT (p.Asn790fs) rs387906270
NM_001146262.4(SYT14):c.1316G>A (p.Gly439Asp) rs387907033
NM_001173990.3(TMEM216):c.218G>A (p.Arg73His) rs201108965
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) rs72554634
NM_001271696.3(ABCB7):c.1231G>C (p.Val411Leu) rs80356713
NM_001271696.3(ABCB7):c.1297G>A (p.Glu433Lys) rs80356714
NM_001271696.3(ABCB7):c.2021A>G (p.Asp674Gly)
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp) rs515726147
NM_001278064.1(GRM1):c.[2652_2654delGAA;2660+2T>C]
NM_001278064.2(GRM1):c.1360C>T (p.Leu454Phe) rs988699004
NM_001278064.2(GRM1):c.2375A>G (p.Tyr792Cys) rs1554308513
NM_001278064.2(GRM1):c.3165dup (p.Gly1056fs) rs1554317158
NM_001278064.2(GRM1):c.785A>G (p.Tyr262Cys) rs1554274719
NM_001278064.2(GRM1):c.889C>T (p.Arg297Ter)
NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter) rs797045119
NM_001349232.2(ATG7):c.1532G>A (p.Gly511Asp) rs2152811529
NM_001349232.2(ATG7):c.1535T>C (p.Leu512Pro) rs2152811539
NM_001349232.2(ATG7):c.1870C>T (p.His624Tyr) rs777067201
NM_001349232.2(ATG7):c.782A>G (p.Gln261Arg) rs2152756968
NM_001378452.1(ITPR1):c.106C>T (p.Arg36Cys) rs2124927471
NM_001378452.1(ITPR1):c.1804A>G (p.Asn602Asp) rs397514536
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu) rs121912425
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met) rs397514535
NM_001378615.1(CC2D2A):c.2338+1G>C rs2109050324
NM_001378615.1(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser) rs118204051
NM_001378969.1(KCND3):c.1054A>C (p.Thr352Pro) rs397515476
NM_001378969.1(KCND3):c.1150G>A (p.Gly384Ser) rs1664632655
NM_001378969.1(KCND3):c.677TCT[1] (p.Phe227del) rs397515475
NM_001378969.1(KCND3):c.877_885dup (p.Arg296_Ile297insValPheArg)
NM_001382391.1(CSPP1):c.2259_2260del (p.Glu755fs) rs587777139
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs) rs587777145
NM_001382391.1(CSPP1):c.2295del (p.Glu766fs) rs587777140
NM_001382391.1(CSPP1):c.2542_2543del (p.Met848fs) rs587777143
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_001382391.1(CSPP1):c.2788C>T (p.Arg930Ter) rs537456518
NM_001382391.1(CSPP1):c.2968+1G>A rs587777142
NM_001382391.1(CSPP1):c.3227dup (p.Tyr1076Ter) rs587777141
NM_001382391.1(CSPP1):c.625C>T (p.Gln209Ter) rs587777146
NM_001386140.1(MTTP):c.1237-1G>A rs1560621444
NM_001386140.1(MTTP):c.1237_1344del (p.Ser413_Lys448del)
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile) rs199422222
NM_001386140.1(MTTP):c.215del (p.Pro72fs) rs1560614154
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr) rs199422221
NM_001510.3(GRID2):c.530-12057_735+24661del36924
NM_001961.4(EEF2):c.1787C>A (p.Pro596His) rs587777052
NM_002024.6:c.-128GGM[55_?]
NM_002522.4(NPTX1):c.1109A>G (p.Gln370Arg)
NM_002522.4(NPTX1):c.428G>T (p.Arg143Leu)
NM_002522.4(NPTX1):c.980A>G (p.Glu327Gly)
NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly) rs121918517
NM_002739.5(PRKCG):c.1438G>T (p.Asp480Tyr) rs387906679
NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu) rs121918516
NM_002739.5(PRKCG):c.2091_*98del (p.Met697_Ter698delinsXaa) rs1555808841
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr) rs121918511
NM_002739.5(PRKCG):c.303C>G (p.His101Gln) rs121918518
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp) rs121918514
NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro) rs121918512
NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg) rs121918515
NM_002739.5(PRKCG):c.383G>A (p.Gly128Asp) rs121918513
NM_002739.5(PRKCG):c.530_919del
NM_002913.5(RFC1):c.1162C>T (p.Arg388Ter)
NM_002913.5(RFC1):c.2535+2T>C
NM_002913.5(RFC1):c.2690+1G>A
NM_002913.5(RFC1):c.575del (p.Asn192fs)
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?]) rs1885090126
NM_003047.5(SLC9A1):c.862del (p.Ile288fs) rs2083214834
NM_003047.5(SLC9A1):c.913G>A (p.Gly305Arg) rs786204831
NM_003383.5(VLDLR):c.1249_1255del (p.Tyr417fs) rs398122380
NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter) rs80338905
NM_003383.5(VLDLR):c.149G>A (p.Trp50Ter)
NM_003383.5(VLDLR):c.1724G>A (p.Trp575Ter)
NM_003383.5(VLDLR):c.1961A>G (p.Glu654Gly)
NM_003383.5(VLDLR):c.2117G>T (p.Cys706Phe) rs397514750
NM_003383.5(VLDLR):c.2339del (p.Ile780fs) rs80338906
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter) rs80338907
NM_003383.5(VLDLR):c.820+1G>A
NM_003383.5(VLDLR):c.901C>T (p.Arg301Ter)
NM_004056.6(CA8):c.232C>T (p.Arg78Ter)
NM_004056.6(CA8):c.251A>G (p.Asn84Ser)
NM_004056.6(CA8):c.298T>C (p.Ser100Pro) rs267606695
NM_004056.6(CA8):c.484G>A (p.Gly162Arg)
NM_004115.4(FGF14):c.211dup (p.Ile71fs)
NM_004115.4(FGF14):c.434T>C (p.Phe145Ser) rs104894393
NM_004115.4(FGF14):c.439G>T (p.Glu147Ter) rs865878627
NM_004115.4(FGF14):c.487del (p.Arg163fs) rs587776685
NM_004115.4(FGF14):c.529A>T (p.Lys177Ter) rs1555370787
NM_004715.5(CTDP1):c.863+389C>T rs113994102
NM_004849.4(ATG5):c.366A>T (p.Glu122Asp) rs1131692265
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His) rs104894699
NM_004977.3(KCNC3):c.1283C>T (p.Thr428Ile) rs879253883
NM_004977.3(KCNC3):c.1344C>A (p.Phe448Leu) rs104894700
NM_004993.6(ATXN3):c.892CAG[8_36] rs193922928
NM_005861.4(STUB1):c.194A>G (p.Asn65Ser) rs690016544
NM_005861.4(STUB1):c.235G>A (p.Ala79Thr) rs587777346
NM_005861.4(STUB1):c.236C>A (p.Ala79Asp) rs587777347
NM_005861.4(STUB1):c.367C>G (p.Leu123Val) rs587777344
NM_005861.4(STUB1):c.389A>T (p.Asn130Ile) rs587777341
NM_005861.4(STUB1):c.441G>T (p.Trp147Cys) rs587777342
NM_005861.4(STUB1):c.493C>T (p.Leu165Phe) rs587777340
NM_005861.4(STUB1):c.682C>T (p.Pro228Ser) rs2039691550
NM_005861.4(STUB1):c.689_692del (p.Tyr230fs) rs754446573
NM_005861.4(STUB1):c.737C>T (p.Thr246Met) rs587777343
NM_005861.4(STUB1):c.818_819dup (p.Pro274fs) rs2039704195
NM_005861.4(STUB1):c.97G>A (p.Gly33Ser) rs2039634238
NM_006297.3(XRCC1):c.1393C>T (p.Gln465Ter) rs1555768154
NM_006392.4(NOP56):c.3+71_3GGCCTG[16_?] rs1555779353
NM_006793.5(PRDX3):c.340dup (p.Ala114fs) rs2133659317
NM_006793.5(PRDX3):c.37-2A>G rs1368897658
NM_006793.5(PRDX3):c.489C>G (p.Asp163Glu)
NM_006793.5(PRDX3):c.508C>T (p.Arg170Ter) rs140609531
NM_006793.5(PRDX3):c.658C>T (p.Gln220Ter)
NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr) rs151344512
NM_006796.3(AFG3L2):c.1961C>T (p.Thr654Ile) rs151344513
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.3(AFG3L2):c.1997T>G (p.Met666Arg) rs151344515
NM_006796.3(AFG3L2):c.2011G>A (p.Gly671Arg) rs151344517
NM_006796.3(AFG3L2):c.2021_2022delinsTA (p.Ser674Leu) rs151344519
NM_006796.3(AFG3L2):c.2071G>A (p.Glu691Lys) rs151344520
NM_006796.3(AFG3L2):c.2081C>A (p.Ala694Glu) rs151344521
NM_006885.4:c.10519GGC[42-74]
NM_006946.4(SPTBN2):c.1240C>T (p.Arg414Cys) rs1318256630
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp) rs397514749
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del) rs1554985851
NM_006946.4(SPTBN2):c.1881C>A (p.Cys627Ter) rs146859515
NM_006946.4(SPTBN2):c.1886_1900del (p.Leu629_Arg634delinsTrp) rs1941485201
NM_006946.4(SPTBN2):c.2864_2868del (p.Thr955fs) rs373728971
NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro) rs121918306
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del) rs786205207
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs) rs587784365
NM_007254.4(PNKP):c.1322_1323insAGCCG (p.Gly442fs) rs886037744
NM_007254.4(PNKP):c.1549_1550insTGTACTGC (p.Gln517fs) rs1555810613
NM_007289.4(MME):c.428G>A (p.Cys143Tyr) rs879255651
NM_014053.4(FLVCR1):c.1028T>C (p.Ile343Thr)
NM_014053.4(FLVCR1):c.1477G>C (p.Gly493Arg) rs1558121050
NM_014053.4(FLVCR1):c.382T>A (p.Tyr128Asn)
NM_014053.4(FLVCR1):c.610del (p.Met204fs)
NM_014053.4(FLVCR1):c.721G>A (p.Ala241Thr) rs267606819
NM_014053.4(FLVCR1):c.730G>A (p.Gly244Ser) rs1664140651
NM_014363.6(SACS):c.1185_1194del (p.Cys395fs) rs2137724246
NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro) rs137853016
NM_014363.6(SACS):c.2060del (p.Asp687fs) rs2137716138
NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser) rs137853019
NM_014363.6(SACS):c.3328dup (p.Ile1110fs) rs770866403
NM_014363.6(SACS):c.3585del (p.Ile1195fs) rs2137634136
NM_014363.6(SACS):c.4033dup (p.Gln1345fs) rs606231163
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) rs137853017
NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg) rs137853018
NM_014396.4(VPS41):c.1898G>C (p.Arg633Pro) rs1244049089
NM_014396.4(VPS41):c.2372G>T (p.Cys791Phe) rs1246628003
NM_014396.4(VPS41):c.450+1G>T rs2116102196
NM_014687.4(RUBCN):c.2624del (p.Ala875fs) rs587777235
NM_015046.5(SETX):c.[1807A>G;1957C>A]
NM_015046.5(SETX):c.[3880C>T;822G>H]
NM_015046.7(SETX):c.1027G>T (p.Glu343Ter) rs121434381
NM_015046.7(SETX):c.2602C>T (p.Gln868Ter) rs121434377
NM_015046.7(SETX):c.2967_2971del (p.Arg989fs) rs587776536
NM_015046.7(SETX):c.340CTT[1] (p.Leu115del) rs587776537
NM_015046.7(SETX):c.6638C>T (p.Pro2213Leu) rs28940290
NM_015160.3(PMPCA):c.1129G>A (p.Ala377Thr) rs753611141
NM_015160.3(PMPCA):c.287C>T (p.Ser96Leu) rs869025292
NM_015215.4(CAMTA1):c.180_183del (p.Leu61fs) rs2148504421
NM_015215.4(CAMTA1):c.404A>G (p.Glu135Gly) rs2149303084
NM_015215.4(CAMTA1):c.4621C>T (p.Arg1541Ter) rs2096866595
NM_015215.4(CAMTA1):c.627del (p.Lys208_Trp209insTer) rs1085307743
NM_015215.4(CAMTA1):c.838del (p.Ser280fs) rs1064796146
NM_015215.4(CAMTA1):c.882del (p.Tyr297fs) rs886041999
NM_015272.5(RPGRIP1L):c.1975T>C (p.Ser659Pro) rs267607020
NM_015378.4(VPS13D):c.10562A>G (p.Asn3521Ser) rs1557737087
NM_015378.4(VPS13D):c.12683G>A (p.Arg4228Gln) rs1557478316
NM_015378.4(VPS13D):c.3316C>T (p.Gln1106Ter) rs1557680710
NM_015378.4(VPS13D):c.3569G>A (p.Gly1190Asp) rs1557680919
NM_015378.4(VPS13D):c.5409C>A (p.Tyr1803Ter) rs1557684974
NM_015378.4(VPS13D):c.7334_7335del (p.Val2445fs) rs1557705968
NM_016373.4(WWOX):c.1114G>C (p.Gly372Arg) rs587777127
NM_016373.4(WWOX):c.139C>A (p.Pro47Thr) rs587777128
NM_016464.5(TMEM138):c.287A>G (p.His96Arg) rs387907132
NM_016464.5(TMEM138):c.376G>A (p.Ala126Thr) rs387907134
NM_016464.5(TMEM138):c.380C>T (p.Ala127Val) rs387907133
NM_016464.5(TMEM138):c.389A>G (p.Tyr130Cys) rs387907135
NM_016529.6(ATP8A2):c.1128C>G (p.Ile376Met) rs546968533
NM_016529.6(ATP8A2):c.1339G>A (p.Gly447Arg)
NM_016529.6(ATP8A2):c.1580-18C>G
NM_016529.6(ATP8A2):c.2158C>T (p.Arg720Ter) rs1566306570
NM_016614.3(TDP2):c.413_414delinsAA (p.Ser138Ter) rs879255601
NM_017686.4(GDAP2):c.1305dup (p.Ser436fs) rs1557794465
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_017777.4(MKS1):c.1491-2A>G rs886038203
NM_017777.4(MKS1):c.1588+1G>T rs886038204
NM_018075.5(ANO10):c.1150_1151del (p.Leu384fs) rs794726680
NM_018075.5(ANO10):c.1476+1G>T rs761213683
NM_018075.5(ANO10):c.1604del (p.Ala534_Leu535insTer) rs794726681
NM_018294.6(CWF19L1):c.467del (p.Pro156fs) rs879255654
NM_018294.6(CWF19L1):c.946A>T (p.Lys316Ter) rs879255653
NM_018718.3(CEP41):c.33+2T>G rs1584916464
NM_018718.3(CEP41):c.423-2A>C rs781815473
NM_018718.3(CEP41):c.83C>A (p.Ser28Ter) rs1584901211
NM_018718.3(CEP41):c.97+3_97+5del rs2117674119
NM_018896.5(CACNA1G):c.2881G>A (p.Ala961Thr) rs886041505
NM_018896.5(CACNA1G):c.4591A>G (p.Met1531Val) rs1555558553
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His) rs755221106
NM_020247.5(COQ8A):c.1398+2T>C rs606231138
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020247.5(COQ8A):c.1813dup (p.Glu605fs) rs387906298
NM_020247.5(COQ8A):c.500_521delinsTTG (p.Gln167fs) rs606231139
NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp) rs119468006
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val) rs119468006
NM_020680.4(SCYL1):c.1433A>G (p.Asp478Gly) rs1554969925
NM_020680.4(SCYL1):c.1509_1510del (p.Ala504fs) rs864309665
NM_020680.4(SCYL1):c.1534dup (p.Cys512fs) rs1590740858
NM_020680.4(SCYL1):c.169C>T (p.Gln57Ter) rs1554967681
NM_020680.4(SCYL1):c.1882C>T (p.Gln628Ter) rs1554970375
NM_020680.4(SCYL1):c.937del (p.Val313fs) rs864309664
NM_021814.5(ELOVL5):c.214C>G (p.Leu72Val) rs587777671
NM_021814.5(ELOVL5):c.689G>T (p.Gly230Val) rs587777670
NM_022464.5(SIL1):c.1029+1G>A
NM_022464.5(SIL1):c.1312C>T (p.Gln438Ter) rs119456966
NM_022464.5(SIL1):c.1370T>C (p.Leu457Pro)
NM_022464.5(SIL1):c.331C>T (p.Arg111Ter)
NM_022464.5(SIL1):c.506_509dup (p.Asp170fs)
NM_022464.5(SIL1):c.603_607del (p.Glu201fs)
NM_022464.5(SIL1):c.645+1G>A
NM_022464.5(SIL1):c.645+2T>C
NM_022464.5(SIL1):c.936dup (p.Leu313fs)
NM_022464.5:c.454-6721_768-23561del
NM_022726.4(ELOVL4):c.504G>C (p.Leu168Phe) rs587777598
NM_022726.4(ELOVL4):c.736T>G (p.Trp246Gly) rs1131692036
NM_023077.3(COA7):c.17A>G (p.Asp6Gly) rs780572767
NM_023077.3(COA7):c.247+1G>T rs1197945739
NM_023077.3(COA7):c.431del (p.Gly144fs) rs1558102464
NM_023077.3(COA7):c.446G>T (p.Ser149Ile) rs1558102448
NM_024818.6(UBA5):c.736C>T (p.Arg246Ter) rs540839115
NM_024818.6(UBA5):c.928A>G (p.Lys310Glu) rs886039762
NM_025114.4(CEP290):c.21G>T (p.Trp7Cys) rs62635288
NM_025114.4(CEP290):c.4656del (p.Glu1553fs) rs62640572
NM_032856.5(WDR73):c.1039C>T (p.His347Tyr) rs754099015
NM_032856.5(WDR73):c.129T>G (p.Tyr43Ter) rs727502863
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.400_401del (p.Trp136fs) rs767086146
NM_032856.5(WDR73):c.68T>A (p.Leu23Gln) rs797044993
NM_032856.5(WDR73):c.766dup (p.Arg256fs) rs727502864
NM_032856.5(WDR73):c.888del (p.Phe296fs) rs869320712
NM_032856.5(WDR73):c.940C>T (p.Gln314Ter) rs797044994
NM_033064.5(ATCAY):c.602_608del (p.Asp201fs) rs2145248615
NM_033064.5(ATCAY):c.[903C>G;965+3G>T]
NM_033109.5(PNPT1):c.2014-3C>G rs748445058
NM_033109.5(PNPT1):c.2069+3A>G rs2104026165
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys) rs587777771
NM_152617.4(RNF168):c.1323_1326del (p.Gln442fs) rs1047608955
NM_152617.4(RNF168):c.397dup (p.Ala133fs) rs1577516447
NM_152703.5(SAMD9L):c.1877C>T (p.Ser626Leu) rs1554341671
NM_152703.5(SAMD9L):c.2640C>A (p.His880Gln) rs878855336
NM_152703.5(SAMD9L):c.2672T>C (p.Ile891Thr) rs1554341277
NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys) rs1554341158
NM_152703.5(SAMD9L):c.3587G>C (p.Cys1196Ser) rs878855337
NM_153704.6(TMEM67):c.1538A>G (p.Tyr513Cys) rs137853107
NM_153704.6(TMEM67):c.1961-2A>C rs758948621
NM_153704.6(TMEM67):c.2556+1G>T rs786200867
NM_153816.2(SNX14):c.1108+1181_2108-2342del
NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys) rs201128942
NM_153816.6(SNX14):c.1894+1G>T rs876657386
NM_153816.6(SNX14):c.2596C>T (p.Gln866Ter) rs876657385
NM_153816.6(SNX14):c.428T>A (p.Leu143Ter) rs876657387
NM_153816.6(SNX14):c.645dup (p.Glu216fs) rs869320748
NM_173500.4(TTBK2):c.1287_1288del (p.Glu429fs) rs80356539
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs) rs80356538
NM_182961.4(SYNE1):c.11909_11910del (p.Met3970fs) rs606231135
NM_182961.4(SYNE1):c.16390-2A>G rs759460806
NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs) rs794727986
NM_182961.4(SYNE1):c.21741C>A (p.Tyr7247Ter) rs1269308421
NM_182961.4(SYNE1):c.22369C>T (p.Gln7457Ter) rs119103245
NM_182961.4(SYNE1):c.23131C>T (p.Gln7711Ter) rs119103244
NM_198994.3(TGM6):c.1719AGA[1] (p.Glu574del) rs793888526
NR_002717.2(ATXN8OS):n.1103CTG[(107_127)]
NR_029422.2(RNU12):n.84C>T
RFC1, (ACAGG)n REPEAT EXPANSION
THAP11, (CAG)n REPEAT EXPANSION

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