ClinVar Miner

List of variants studied for cerebellar ataxia by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (255):
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ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_001001344.3(ATP2B3):c.790+17G>C rs2980013 0.99748
NM_001001344.3(ATP2B3):c.1473A>G (p.Gly491=) rs3020949 0.99114
NM_004977.3(KCNC3):c.188A>G (p.Asp63Gly) rs375912738 0.98789
NM_198994.3(TGM6):c.1968-10C>T rs6036467 0.98682
NM_014363.6(SACS):c.10338G>A (p.Gln3446=) rs2737701 0.98600
NM_000144.5(FXN):c.54A>G (p.Pro18=) rs2481598 0.98511
NM_001001344.3(ATP2B3):c.2326+11C>T rs3020957 0.95109
NM_198994.3(TGM6):c.172A>G (p.Met58Val) rs2076405 0.93204
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=) rs626169 0.90284
NM_002739.5(PRKCG):c.72C>T (p.Ala24=) rs2547362 0.89099
NM_001001344.3(ATP2B3):c.2839+14G>T rs3020959 0.88308
NM_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_014630.3(ZNF592):c.2238A>G (p.Gln746=) rs2241645 0.75696
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=) rs3809872 0.73341
NM_001278064.2(GRM1):c.3168T>G (p.Gly1056=) rs6923864 0.64620
NM_198994.3(TGM6):c.850+12G>A rs2076404 0.61481
NM_000370.3(TTPA):c.663+11T>C rs4501570 0.59337
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_018075.5(ANO10):c.1385G>A (p.Arg462Gln) rs3772165 0.58882
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro) rs6923492 0.56892
NM_018075.5(ANO10):c.1293+9A>G rs7616708 0.56196
NM_001278064.2(GRM1):c.3495C>A (p.Pro1165=) rs9373491 0.55222
NM_022464.5(SIL1):c.153A>G (p.Thr51=) rs3088052 0.50252
NM_001278064.2(GRM1):c.2793G>A (p.Lys931=) rs2942 0.49950
NM_014053.4(FLVCR1):c.154G>C (p.Ala52Pro) rs11120047 0.45814
NM_020247.5(COQ8A):c.1660-9T>C rs7552783 0.45219
NM_198994.3(TGM6):c.1968-11C>T rs2076653 0.44564
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_001001344.3(ATP2B3):c.2592G>C (p.Val864=) rs2269415 0.41962
NM_014053.4(FLVCR1):c.1631C>T (p.Thr544Met) rs3207090 0.38895
NM_020247.5(COQ8A):c.1573-20C>G rs2297416 0.38143
NM_002739.5(PRKCG):c.686+14G>T rs3745405 0.36258
NM_002739.5(PRKCG):c.567T>C (p.Asn189=) rs3745406 0.35855
NM_014630.3(ZNF592):c.2777G>A (p.Ser926Asn) rs8182086 0.27524
NM_001077418.3(TMEM231):c.582+17T>A rs2738801 0.27293
NM_198994.3(TGM6):c.1476G>A (p.Lys492=) rs2295077 0.26375
NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=) rs8065251 0.22229
NM_014053.4(FLVCR1):c.1307+19T>A rs2291772 0.21660
NM_014053.4(FLVCR1):c.1593+9T>C rs17019870 0.21623
NM_004715.5(CTDP1):c.978G>A (p.Thr326=) rs599554 0.20817
NM_004715.5(CTDP1):c.1461G>A (p.Pro487=) rs2126082 0.18278
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_024411.5(PDYN):c.600T>C (p.His200=) rs6045819 0.16142
NM_006946.4(SPTBN2):c.3101T>C (p.Val1034Ala) rs506028 0.15920
NM_001146262.4(SYT14):c.1419T>C (p.Tyr473=) rs17188183 0.09972
NM_014363.6(SACS):c.696T>A (p.Asn232Lys) rs2031640 0.08558
NM_014363.6(SACS):c.1656A>G (p.Leu552=) rs1536365 0.08543
NM_003194.5(TBP):c.216A>G (p.Gln72=) rs55736770 0.08146
NM_001386140.1(MTTP):c.1151A>C (p.Asp384Ala) rs17029215 0.07361
NM_018075.5(ANO10):c.1066A>G (p.Ser356Gly) rs56389778 0.05750
NM_018075.5(ANO10):c.1682C>T (p.Thr561Met) rs17409162 0.04859
NM_001386140.1(MTTP):c.136C>G (p.Arg46Gly) rs141736123 0.01357
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_001001344.3(ATP2B3):c.3052-5C>T rs189012896 0.00714
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=) rs17849927 0.00488
NM_018075.5(ANO10):c.980A>G (p.Tyr327Cys) rs146569520 0.00359
NM_001001344.3(ATP2B3):c.3518C>T (p.Ala1173Val) rs149428057 0.00320
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_001386140.1(MTTP):c.2513+13G>A rs148073215 0.00176
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_004977.3(KCNC3):c.315G>C (p.Thr105=) rs368049323 0.00104
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_000253.3(MTTP):c.-214G>A rs569667113 0.00066
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_001386140.1(MTTP):c.2657C>T (p.Pro886Leu) rs144600401 0.00028
NM_033064.5(ATCAY):c.442G>A (p.Ala148Thr) rs200021943 0.00021
NM_002739.5(PRKCG):c.1747G>A (p.Val583Met) rs143513754 0.00014
NM_006946.4(SPTBN2):c.1323C>T (p.Leu441=) rs764447133 0.00002
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser) rs72551323
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del) rs2307890
NM_001278064.2(GRM1):c.3213T>G (p.Pro1071=) rs1047006
NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp) rs1471641294
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593

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