ClinVar Miner

List of variants reported as not provided for cerebellar disorder by GeneReviews

Included ClinVar conditions (274):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 104
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HGVS dbSNP gnomAD frequency
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_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
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_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_015046.7(SETX):c.5927T>G (p.Leu1976Arg) rs121434379 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 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_000370.3(TTPA):c.175C>T (p.Arg59Trp) rs397515522 0.00001
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys) rs397515524 0.00001
NM_006796.3(AFG3L2):c.2065T>C (p.Tyr689His) rs1598820860 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
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_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_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_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.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.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_015046.7(SETX):c.193G>A (p.Glu65Lys) rs1554825315
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) rs754279998
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.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_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_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

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