ClinVar Miner

List of variants reported as not provided for cerebellar disorder

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 164
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HGVS dbSNP gnomAD frequency
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_021814.5(ELOVL5):c.246+3891C>T rs150583340 0.00704
NM_004993.6(ATXN3):c.916G>C (p.Gly306Arg) rs12895357 0.00572
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894 0.00053
NM_182961.4(SYNE1):c.24827C>G (p.Ala8276Gly) rs142985368 0.00051
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744 0.00034
NM_014053.4(FLVCR1):c.1158T>G (p.Ile386Met) rs149834738 0.00032
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_003383.5(VLDLR):c.732C>G (p.Ile244Met) rs145995735 0.00026
NM_001163809.2(WDR81):c.5582C>T (p.Pro1861Leu) rs151078477 0.00024
NM_182961.4(SYNE1):c.20737C>T (p.Arg6913Cys) rs142593312 0.00011
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_000370.3(TTPA):c.575G>A (p.Arg192His) rs121917850 0.00010
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236 0.00008
NM_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile) rs776461147 0.00006
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser) rs119468009 0.00006
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851 0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) rs199422220 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_001163809.2(WDR81):c.626C>A (p.Pro209His) rs200343855 0.00003
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser) rs201096140 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) rs121434379 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_153816.6(SNX14):c.1108G>T (p.Glu370Ter) rs201128942 0.00003
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 0.00002
NM_006946.4(SPTBN2):c.3929G>A (p.Arg1310His) rs201852582 0.00002
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 0.00002
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp) rs397515522 0.00001
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys) rs397515524 0.00001
NM_000391.4(TPP1):c.902A>C (p.Gln301Pro) rs1191799507 0.00001
NM_001278064.2(GRM1):c.1602G>A (p.Lys534=) rs775323670 0.00001
NM_001329943.3(KIAA0586):c.2932_2944+4del rs1278372009 0.00001
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His) rs1598820860 0.00001
NM_006946.4(SPTBN2):c.6109C>T (p.Arg2037Cys) rs200529832 0.00001
NM_007289.4(MME):c.1511A>T (p.Glu504Val) rs201239248 0.00001
NM_014363.6(SACS):c.10907G>A (p.Arg3636Gln) rs281865119 0.00001
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter) rs281865120 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_020247.5(COQ8A):c.1136T>A (p.Leu379Ter) rs747150601 0.00001
NM_020247.5(COQ8A):c.1523T>C (p.Phe508Ser) rs1057519343 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_021830.5(TWNK):c.1370C>T (p.Thr457Ile) rs80356544 0.00001
NM_021830.5(TWNK):c.952G>A (p.Ala318Thr) rs80356542 0.00001
GRCh37/hg19 19p13.2(chr19:13418596-13419188)x1
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs) rs397508010
NM_000370.3(TTPA):c.191A>G (p.Asp64Gly) rs397515523
NM_000370.3(TTPA):c.205-1G>T rs886040963
NM_000370.3(TTPA):c.303T>G (p.His101Gln) rs121917849
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000370.3(TTPA):c.548T>C (p.Leu183Pro) rs397515525
NM_000370.3(TTPA):c.552+2T>A rs886040964
NM_000370.3(TTPA):c.736G>C (p.Gly246Arg) rs397515526
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_000784.4(CYP27A1):c.355del (p.Arg119fs) rs587778793
NM_001020658.2(PUM1):c.2405C>T (p.Ser802Phe) rs1640045849
NM_001080414.4(CCDC88C):c.1085C>T (p.Thr362Ile)
NM_001127222.2(CACNA1A):c.1199A>T (p.Glu400Val) rs1600353470
NM_001127222.2(CACNA1A):c.1237C>T (p.Gln413Ter)
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met) rs121908212
NM_001127222.2(CACNA1A):c.2904_2929del (p.Pro969fs) rs1555755909
NM_001127222.2(CACNA1A):c.322A>G (p.Ile108Val) rs1599294284
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.4031T>C (p.Leu1344Pro) rs2144773045
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln) rs1057520918
NM_001127222.2(CACNA1A):c.4515T>G (p.Phe1505Leu) rs757643322
NM_001127222.2(CACNA1A):c.4804A>G (p.Ile1602Val) rs2056444576
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127222.2(CACNA1A):c.5410C>T (p.Leu1804Phe)
NM_001127222.2(CACNA1A):c.5936A>C (p.Glu1979Ala)
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del) rs775428832
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys) rs1555773764
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) rs121908215
NM_001142633.3(PIK3R5):c.13G>A (p.Ala5Thr)
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001204747.1:c.132+2923_2927AAAAG[(12_200)]
NM_001204747.1:c.132+2923_2927AAAGG[(40_1000)]
NM_001204747.1:c.132+2923_2927AAGGG[(400_2000)]
NM_001204747.1:c.132+2923_2927ACAGG[(400_2000)]
NM_001271696.3(ABCB7):c.1200T>G (p.Ile400Met) rs72554634
NM_001271696.3(ABCB7):c.624A>T (p.Glu208Asp) rs515726147
NM_001378452.1(ITPR1):c.3248C>T (p.Pro1083Leu) rs121912425
NM_001378452.1(ITPR1):c.3617A>G (p.Lys1206Arg)
NM_001378452.1(ITPR1):c.4333G>A (p.Val1445Met) rs1559718601
NM_001382391.1(CSPP1):c.255_256del (p.His85fs) rs1554562278
NM_001386140.1(MTTP):c.1304T>A (p.Leu435His) rs1560621495
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile) rs199422222
NM_001386140.1(MTTP):c.2237G>A (p.Gly746Glu) rs767833468
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr) rs199422221
NM_001961.4(EEF2):c.1979A>G (p.Asn660Ser) rs945307250
NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu) rs121918516
NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr) rs1555806333
NM_002739.5(PRKCG):c.2091_*98del (p.Met697_Ter698delinsXaa) rs1555808841
NM_002739.5(PRKCG):c.226C>T (p.Arg76Ter) rs2068614711
NM_002739.5(PRKCG):c.285C>G (p.Asp95Glu) rs17854523
NM_002739.5(PRKCG):c.301C>T (p.His101Tyr) rs121918511
NM_002739.5(PRKCG):c.302A>G (p.His101Arg) rs2068656783
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.383G>A (p.Gly128Asp) rs121918513
NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg) rs386134166
NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr) rs386134167
NM_002739.5(PRKCG):c.413T>A (p.Val138Glu) rs386134168
NM_002739.5(PRKCG):c.767T>C (p.Met256Thr) rs2068685112
NM_002739.5(PRKCG):c.76A>G (p.Arg26Gly) rs386134157
NM_002973.4(ATXN2):c.16CAG[22_31] (p.6Gln[22_31]) rs1885090126
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?]) rs1885090126
NM_003383.5(VLDLR):c.1124T>G (p.Val375Gly)
NM_003383.5(VLDLR):c.1342C>T (p.Arg448Ter) rs80338905
NM_003383.5(VLDLR):c.2339del (p.Ile780fs) rs80338906
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter) rs80338907
NM_004715.5(CTDP1):c.863+389C>T rs113994102
NM_006796.3(AFG3L2):c.1295A>C (p.Asn432Thr) rs151344512
NM_006796.3(AFG3L2):c.1378G>A (p.Asp460Asn) rs2143165387
NM_006796.3(AFG3L2):c.1958dup (p.Thr654fs) rs2143124461
NM_006796.3(AFG3L2):c.1996A>G (p.Met666Val) rs151344514
NM_006796.3(AFG3L2):c.1997T>C (p.Met666Thr) rs151344515
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.2012G>A (p.Gly671Glu) rs151344518
NM_006796.3(AFG3L2):c.2062C>A (p.Pro688Thr) rs797045221
NM_006796.3(AFG3L2):c.2065T>A (p.Tyr689Asn) rs1598820860
NM_006796.3(AFG3L2):c.2098G>A (p.Glu700Lys) rs151344522
NM_013236.3(ATXN10):c.1173+54822_1173+54826ATTCT[280]
NM_014363.6(SACS):c.5917A>G (p.Lys1973Glu)
NM_014363.6(SACS):c.8487G>A (p.Met2829Ile) rs1566062847
NM_015046.7(SETX):c.193G>A (p.Glu65Lys) rs1554825315
NM_015215.4(CAMTA1):c.4103_4104del (p.Glu1368fs) rs1577313897
NM_015215.4(CAMTA1):c.423G>C (p.Lys141Asn) rs1666321359
NM_015378.4(VPS13D):c.5802A>C (p.Arg1934Ser)
NM_016373.4(WWOX):c.629A>G (p.Asn210Ser) rs767929766
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
NM_018896.5(CACNA1G):c.1471G>T (p.Val491Phe) rs201788352
NM_020247.5(COQ8A):c.1081-1_1082dup rs1057519344
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.1844G>A (p.Gly615Asp) rs752130338
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) rs764847439
NM_020247.5(COQ8A):c.337G>T (p.Glu113Ter) rs765966679
NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp) rs119468006
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val) rs119468006
NM_021814.5(ELOVL5):c.214C>G (p.Leu72Val) rs587777671
NM_021814.5(ELOVL5):c.689G>T (p.Gly230Val) rs587777670
NM_021830.5(TWNK):c.1287C>T (p.Ala429=) rs80356541
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs) rs386834148
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_153816.6(SNX14):c.2557+1G>A rs200277996
NM_173500.4(TTBK2):c.1287_1288del (p.Glu429fs) rs80356539
NM_173500.4(TTBK2):c.1306_1307del (p.Asp436fs) rs318240735
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs) rs80356538
NM_182961.4(SYNE1):c.3930_3931dup (p.His1311fs) rs1592773965

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