ClinVar Miner

List of variants reported as uncertain significance for cerebellar ataxia by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 80
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HGVS dbSNP gnomAD frequency
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364 0.00063
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_001379286.1(ZNF423):c.1216C>T (p.Arg406Trp) rs368847069 0.00013
NM_003383.5(VLDLR):c.1667G>A (p.Arg556Gln) rs746518411 0.00011
NM_001134831.2(AHI1):c.1694G>A (p.Arg565His) rs372894716 0.00007
NM_015378.4(VPS13D):c.9928G>C (p.Glu3310Gln) rs756615407 0.00005
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_006946.4(SPTBN2):c.5939C>A (p.Ala1980Glu) rs750934185 0.00003
NM_014363.6(SACS):c.13621T>A (p.Leu4541Met) rs769260277 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_001134831.2(AHI1):c.1933C>T (p.Arg645Cys) rs1291908829 0.00001
NM_001382391.1(CSPP1):c.3229G>A (p.Gly1077Ser) rs1835967725 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_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_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_001329943.3(KIAA0586):c.1233G>T (p.Trp411Cys) rs548318176
NM_001378452.1(ITPR1):c.5354G>C (p.Gly1785Ala) rs200004069
NM_001378452.1(ITPR1):c.7852A>C (p.Thr2618Pro)
NM_001378615.1(CC2D2A):c.667G>A (p.Glu223Lys)
NM_001378969.1(KCND3):c.917G>A (p.Gly306Asp) rs2101995501
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_003383.5(VLDLR):c.263G>A (p.Arg88Gln)
NM_004115.4(FGF14):c.193+3C>T
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.3479T>C (p.Met1160Thr)
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_014363.6(SACS):c.2926_2927insAT (p.Arg976fs)
NM_014363.6(SACS):c.4268A>G (p.His1423Arg) rs2137629036
NM_014363.6(SACS):c.7539_7540del (p.Cys2514fs) rs1467848128
NM_014363.6(SACS):c.7583T>G (p.Leu2528Trp) rs2137599038
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.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_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_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.647G>A (p.Ser216Asn)
NM_152296.5(ATP1A3):c.2843T>G (p.Leu948Arg)
NM_152703.5(SAMD9L):c.4547dup (p.Asn1516fs)
NM_152703.5(SAMD9L):c.683G>A (p.Cys228Tyr) rs1433514195
NM_153816.6(SNX14):c.739C>G (p.Leu247Val)
NM_173500.4(TTBK2):c.331G>A (p.Gly111Ser)
NM_182961.4(SYNE1):c.13612G>T (p.Glu4538Ter)
NM_198994.3(TGM6):c.1132dup (p.Arg378fs)
NM_198994.3(TGM6):c.1163G>A (p.Gly388Asp) rs2122375873

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