ClinVar Miner

List of variants reported as not provided for cerebellar degeneration

Included ClinVar conditions (78):
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ClinVar version:
Total variants: 68
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
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_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile) rs776461147 0.00006
NM_006946.4(SPTBN2):c.3929G>A (p.Arg1310His) rs201852582 0.00002
NM_001278064.2(GRM1):c.1602G>A (p.Lys534=) rs775323670 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
GRCh37/hg19 19p13.2(chr19:13418596-13419188)x1
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.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.835C>T (p.Arg279Cys) rs1555773764
NM_001127222.2(CACNA1A):c.877G>A (p.Gly293Arg) rs121908215
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_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_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_015215.4(CAMTA1):c.423G>C (p.Lys141Asn) rs1666321359
NM_018896.5(CACNA1G):c.1471G>T (p.Val491Phe) rs201788352
NM_021814.5(ELOVL5):c.214C>G (p.Leu72Val) rs587777671
NM_021814.5(ELOVL5):c.689G>T (p.Gly230Val) rs587777670
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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