ClinVar Miner

List of variants studied for autosomal dominant cerebellar ataxia by OMIM

Included ClinVar conditions (78):
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ClinVar version:
Total variants: 129
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HGVS dbSNP gnomAD frequency
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_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941 0.00008
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_198994.3(TGM6):c.331C>T (p.Arg111Cys) rs372250159 0.00004
NM_001114748.2(TMEM240):c.239C>T (p.Thr80Met) rs606231454 0.00003
NM_001114748.2(TMEM240):c.511C>T (p.Arg171Trp) rs606231455 0.00002
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_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_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_020680.4(SCYL1):c.1230+1G>A rs864309666 0.00001
NM_020680.4(SCYL1):c.1636C>T (p.Gln546Ter) rs864309667 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
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_000003.12:g.(4480596_4480597)_(4793914_4793915)del
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_021403.2:g.68486_68487insN[2500_3800]
NM_000332.4(ATXN1):c.589CAG[36_38] (p.Gln208[36_38]) rs193922926
NM_000333.4:c.89ACG[7_17] rs193922929
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_001129729.3(PLEKHG4):c.-16C>T rs886041026
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_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_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_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_001961.4(EEF2):c.1787C>A (p.Pro596His) rs587777052
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_002973.4(ATXN2):c.16CAG[27_33] (p.6Gln[27_33]) rs1885090126
NM_002973.4(ATXN2):c.16CAG[33_?] (p.6Gln[33_?]) rs1885090126
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_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.682C>T (p.Pro228Ser) rs2039691550
NM_005861.4(STUB1):c.689_692del (p.Tyr230fs) rs754446573
NM_005861.4(STUB1):c.818_819dup (p.Pro274fs) rs2039704195
NM_005861.4(STUB1):c.97G>A (p.Gly33Ser) rs2039634238
NM_006392.4(NOP56):c.3+71_3GGCCTG[16_?] rs1555779353
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.1438C>T (p.Arg480Trp) rs397514749
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del) rs1554985851
NM_006946.4(SPTBN2):c.1886_1900del (p.Leu629_Arg634delinsTrp) rs1941485201
NM_006946.4(SPTBN2):c.758T>C (p.Leu253Pro) rs121918306
NM_007289.4(MME):c.428G>A (p.Cys143Tyr) rs879255651
NM_013236.5(ATXN10):c.1173+54822_1173ATTCT[10_32] rs60726084
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_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_020680.4(SCYL1):c.1509_1510del (p.Ala504fs) rs864309665
NM_020680.4(SCYL1):c.1534dup (p.Cys512fs) rs1590740858
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_022726.4(ELOVL4):c.504G>C (p.Leu168Phe) rs587777598
NM_022726.4(ELOVL4):c.736T>G (p.Trp246Gly) rs1131692036
NM_024818.6(UBA5):c.736C>T (p.Arg246Ter) rs540839115
NM_024818.6(UBA5):c.928A>G (p.Lys310Glu) rs886039762
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_152703.5(SAMD9L):c.1877C>T (p.Ser626Leu) rs1554341671
NM_173500.4(TTBK2):c.1287_1288del (p.Glu429fs) rs80356539
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs) rs80356538
NM_181675.3(PPP2R2B):c.27CAG[(7_28)[ (p.Ser10[(7-28)])
NM_198994.3(TGM6):c.1719AGA[1] (p.Glu574del) rs793888526
NR_002717.2(ATXN8OS):n.1103CTG[(107_127)]
NR_002717.2(ATXN8OS):n.1103CTG[15_40]

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