ClinVar Miner

List of variants studied for cerebellar degeneration by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (265):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 173
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HGVS dbSNP gnomAD frequency
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_014363.6(SACS):c.6952G>A (p.Ala2318Thr) rs147949881 0.00022
NM_015378.4(VPS13D):c.6595A>G (p.Ser2199Gly) rs545160328 0.00018
NM_001134831.2(AHI1):c.2231A>G (p.Lys744Arg) rs373014753 0.00016
NM_001379286.1(ZNF423):c.1216C>T (p.Arg406Trp) rs368847069 0.00013
NM_003383.5(VLDLR):c.1667G>A (p.Arg556Gln) rs746518411 0.00011
NM_198994.3(TGM6):c.980A>G (p.Asp327Gly) rs387907098 0.00010
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His) rs372894716 0.00007
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_152703.5(SAMD9L):c.626C>T (p.Thr209Met) rs376481930 0.00006
NM_015378.4(VPS13D):c.9928G>C (p.Glu3310Gln) rs756615407 0.00005
NM_016464.5(TMEM138):c.82T>G (p.Ser28Ala) rs764405866 0.00005
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter) rs188850202 0.00004
NM_001379286.1(ZNF423):c.848C>T (p.Thr283Met) rs553506281 0.00004
NM_014363.6(SACS):c.8192G>A (p.Arg2731His) rs201127191 0.00004
NM_000784.4(CYP27A1):c.380G>A (p.Arg127Gln) rs376230356 0.00003
NM_006946.4(SPTBN2):c.5939C>A (p.Ala1980Glu) rs750934185 0.00003
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met) rs769260277 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter) rs886042153 0.00003
NM_001127222.2(CACNA1A):c.6368G>C (p.Arg2123Pro) rs1220294928 0.00002
NM_001134831.2(AHI1):c.2560T>C (p.Cys854Arg) rs1387769677 0.00002
NM_001379286.1(ZNF423):c.296C>T (p.Pro99Leu) rs553868296 0.00002
NM_004715.5(CTDP1):c.440C>T (p.Thr147Met) rs143464787 0.00002
NM_006946.4(SPTBN2):c.1844G>A (p.Arg615Gln) rs768742849 0.00002
NM_020247.5(COQ8A):c.911C>T (p.Ala304Val) rs748118737 0.00002
NM_025114.4(CEP290):c.3708dup (p.Arg1237fs) rs758991387 0.00002
NM_000051.4(ATM):c.3820C>T (p.Gln1274Ter) rs1453429915 0.00001
NM_000051.4(ATM):c.4049C>T (p.Thr1350Met) rs587781785 0.00001
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter) rs762083530 0.00001
NM_000051.4(ATM):c.6347+1G>A rs1057517120 0.00001
NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu) rs1324075885 0.00001
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter) rs587779865 0.00001
NM_001134831.2(AHI1):c.1933C>T (p.Arg645Cys) rs1291908829 0.00001
NM_001382391.1(CSPP1):c.2141C>T (p.Thr714Ile) rs577752590 0.00001
NM_001382391.1(CSPP1):c.3229G>A (p.Gly1077Ser) rs1835967725 0.00001
NM_015046.7(SETX):c.5332C>T (p.Arg1778Ter) rs1169623576 0.00001
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln) rs543247171 0.00001
NM_020247.5(COQ8A):c.1049A>G (p.Lys350Arg) rs548317868 0.00001
NM_022726.4(ELOVL4):c.766A>G (p.Ile256Val) rs775476015 0.00001
NM_000051.4(ATM):c.1235+2T>A
NM_000051.4(ATM):c.1802+1del
NM_000051.4(ATM):c.1943_1944insG (p.Glu649fs)
NM_000051.4(ATM):c.2250+1G>A rs1565395193
NM_000051.4(ATM):c.2466+2T>A rs878853495
NM_000051.4(ATM):c.2674A>T (p.Lys892Ter)
NM_000051.4(ATM):c.3977del (p.Asn1326fs)
NM_000051.4(ATM):c.4612G>T (p.Val1538Leu) rs1034235291
NM_000051.4(ATM):c.5178-2A>G rs2135911500
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_000051.4(ATM):c.6391G>C (p.Ala2131Pro)
NM_000051.4(ATM):c.6541G>A (p.Glu2181Lys) rs2136242185
NM_000051.4(ATM):c.6764T>C (p.Leu2255Pro)
NM_000051.4(ATM):c.6984del (p.Ser2329fs)
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys) rs786203394
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter) rs763470424
NM_000051.4(ATM):c.742C>G (p.Arg248Gly)
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp) rs587780639
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter) rs1060504292
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.8418+4A>C
NM_000051.4(ATM):c.8494C>A (p.Arg2832Ser)
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter) rs1555138291
NM_000051.4(ATM):c.8774G>A (p.Gly2925Asp) rs769959260
NM_000051.4(ATM):c.901+2T>G
NM_000784.4(CYP27A1):c.526del (p.Asp176fs) rs765512351
NM_001020658.2(PUM1):c.170C>A (p.Ala57Glu)
NM_001080414.4(CCDC88C):c.3554A>C (p.Tyr1185Ser)
NM_001080414.4(CCDC88C):c.5440C>T (p.Arg1814Trp)
NM_001080414.4(CCDC88C):c.5668C>G (p.Pro1890Ala)
NM_001114748.2(TMEM240):c.365G>A (p.Arg122Gln)
NM_001130698.2(TRPC3):c.2545C>A (p.Gln849Lys)
NM_001130823.3(DNMT1):c.3311C>T (p.Ala1104Val) rs2089593597
NM_001130823.3(DNMT1):c.616G>A (p.Asp206Asn)
NM_001163809.2(WDR81):c.1735G>A (p.Gly579Arg)
NM_001163809.2(WDR81):c.2410C>T (p.Arg804Ter)
NM_001329943.3(KIAA0586):c.1233G>T (p.Trp411Cys) rs548318176
NM_001378452.1(ITPR1):c.2851T>C (p.Phe951Leu)
NM_001378452.1(ITPR1):c.2887G>A (p.Gly963Ser)
NM_001378452.1(ITPR1):c.5354G>C (p.Gly1785Ala) rs200004069
NM_001378452.1(ITPR1):c.7852A>C (p.Thr2618Pro)
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp) rs886039392
NM_001378615.1(CC2D2A):c.667G>A (p.Glu223Lys)
NM_001378969.1(KCND3):c.917G>A (p.Gly306Asp) rs2101995501
NM_001382391.1(CSPP1):c.385-2A>G
NM_001386140.1(MTTP):c.1072C>T (p.Gln358Ter)
NM_001386140.1(MTTP):c.1705C>T (p.Gln569Ter) rs1725885571
NM_001447.3(FAT2):c.7652G>A (p.Arg2551Lys)
NM_001961.4(EEF2):c.1480A>T (p.Met494Leu)
NM_001961.4(EEF2):c.884A>T (p.Asp295Val)
NM_002739.5(PRKCG):c.1451A>T (p.Asp484Val)
NM_002913.5(RFC1):c.1255del (p.Glu419fs)
NM_002913.5(RFC1):c.2111-1G>C
NM_003383.5(VLDLR):c.263G>A (p.Arg88Gln)
NM_003383.5(VLDLR):c.769C>T (p.Arg257Ter) rs80338907
NM_004115.4(FGF14):c.193+3C>T
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His) rs797044872
NM_005861.4(STUB1):c.116dup (p.Arg40fs)
NM_005861.4(STUB1):c.460C>T (p.Arg154Cys)
NM_005861.4(STUB1):c.553G>A (p.Glu185Lys)
NM_006946.4(SPTBN2):c.254T>C (p.Leu85Pro)
NM_006946.4(SPTBN2):c.3091G>A (p.Ala1031Thr)
NM_006946.4(SPTBN2):c.3475C>T (p.Arg1159Ter)
NM_006946.4(SPTBN2):c.3479T>C (p.Met1160Thr)
NM_006946.4(SPTBN2):c.4654C>T (p.Arg1552Cys)
NM_006946.4(SPTBN2):c.542C>A (p.Ala181Asp)
NM_006946.4(SPTBN2):c.5659G>A (p.Glu1887Lys)
NM_006946.4(SPTBN2):c.571G>T (p.Ala191Ser)
NM_006946.4(SPTBN2):c.6373G>C (p.Gly2125Arg)
NM_006946.4(SPTBN2):c.6953C>T (p.Ser2318Leu)
NM_014053.4(FLVCR1):c.375G>A (p.Trp125Ter)
NM_014363.6(SACS):c.12851_12854del (p.Glu4284fs) rs786204628
NM_014363.6(SACS):c.2926_2927insAT (p.Arg976fs)
NM_014363.6(SACS):c.4268A>G (p.His1423Arg) rs2137629036
NM_014363.6(SACS):c.4605del (p.Phe1535fs)
NM_014363.6(SACS):c.5151del (p.Lys1717fs) rs754439135
NM_014363.6(SACS):c.7539_7540del (p.Cys2514fs) rs1467848128
NM_014363.6(SACS):c.7583T>G (p.Leu2528Trp) rs2137599038
NM_014363.6(SACS):c.8765_8766del (p.Tyr2922fs)
NM_014363.6(SACS):c.9175A>T (p.Lys3059Ter)
NM_015046.7(SETX):c.5243dup (p.Leu1750fs) rs754706851
NM_015046.7(SETX):c.5276del (p.Val1759fs)
NM_015046.7(SETX):c.5505_5507dup (p.Tyr1836Ter)
NM_015046.7(SETX):c.6422dup (p.Ser2142fs)
NM_015046.7(SETX):c.6859C>T (p.Arg2287Ter) rs1339011741
NM_015046.7(SETX):c.7516G>A (p.Ala2506Thr) rs1160553456
NM_015160.3(PMPCA):c.1099G>A (p.Val367Met)
NM_015215.4(CAMTA1):c.1999G>A (p.Glu667Lys)
NM_015215.4(CAMTA1):c.2981C>G (p.Thr994Arg)
NM_015215.4(CAMTA1):c.3118G>A (p.Val1040Met)
NM_015215.4(CAMTA1):c.4115C>T (p.Thr1372Ile)
NM_015378.4(VPS13D):c.5075G>A (p.Arg1692Gln)
NM_016464.5(TMEM138):c.63C>G (p.Asp21Glu)
NM_016529.6(ATP8A2):c.2314G>C (p.Ala772Pro) rs764092726
NM_016529.6(ATP8A2):c.780-1G>T
NM_018718.3(CEP41):c.856C>T (p.Arg286Ter)
NM_018896.5(CACNA1G):c.1228C>T (p.Arg410Trp)
NM_018896.5(CACNA1G):c.1364C>T (p.Ser455Phe)
NM_018896.5(CACNA1G):c.1807A>G (p.Lys603Glu)
NM_018896.5(CACNA1G):c.3086C>T (p.Pro1029Leu)
NM_018896.5(CACNA1G):c.3373A>G (p.Ser1125Gly)
NM_018896.5(CACNA1G):c.4657C>G (p.Arg1553Gly)
NM_018896.5(CACNA1G):c.4663C>G (p.Arg1555Gly)
NM_018896.5(CACNA1G):c.6860C>T (p.Pro2287Leu)
NM_018896.5(CACNA1G):c.757G>A (p.Val253Met)
NM_020680.4(SCYL1):c.1841_1842del (p.Pro614fs)
NM_020680.4(SCYL1):c.476del (p.Gly159fs)
NM_023077.3(COA7):c.97del (p.Asp33fs)
NM_025114.4(CEP290):c.2390del (p.Lys797fs) rs781670422
NM_025114.4(CEP290):c.2594T>C (p.Leu865Pro)
NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del) rs780211907
NM_032856.5(WDR73):c.1126G>A (p.Ala376Thr)
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys) rs797044995
NM_032856.5(WDR73):c.647G>A (p.Ser216Asn)
NM_152296.5(ATP1A3):c.2116G>A (p.Gly706Arg) rs782175860
NM_152296.5(ATP1A3):c.2843T>G (p.Leu948Arg)
NM_152703.5(SAMD9L):c.4148C>T (p.Ser1383Phe)
NM_152703.5(SAMD9L):c.4547dup (p.Asn1516fs)
NM_152703.5(SAMD9L):c.683G>A (p.Cys228Tyr) rs1433514195
NM_153816.6(SNX14):c.1300C>T (p.Gln434Ter) rs1784370895
NM_153816.6(SNX14):c.28C>T (p.Gln10Ter)
NM_153816.6(SNX14):c.739C>G (p.Leu247Val)
NM_173500.4(TTBK2):c.331G>A (p.Gly111Ser)
NM_182961.4(SYNE1):c.10874C>T (p.Thr3625Ile)
NM_182961.4(SYNE1):c.13612G>T (p.Glu4538Ter)
NM_182961.4(SYNE1):c.1792_1793del (p.Val599fs)
NM_182961.4(SYNE1):c.18157C>T (p.Arg6053Ter)
NM_182961.4(SYNE1):c.20132G>T (p.Ser6711Ile)
NM_182961.4(SYNE1):c.7686del (p.Met2562fs)
NM_198994.3(TGM6):c.1132dup (p.Arg378fs)
NM_198994.3(TGM6):c.1163G>A (p.Gly388Asp) rs2122375873

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