ClinVar Miner

List of variants reported as uncertain significance for cerebellar ataxia by Revvity Omics, Revvity

Included ClinVar conditions (255):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 198
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HGVS dbSNP gnomAD frequency
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_022464.5(SIL1):c.1039G>A (p.Glu347Lys) rs73265454 0.00073
NM_001134831.2(AHI1):c.1533T>G (p.Val511=) rs373669500 0.00058
NM_001044385.3(TMEM237):c.251A>G (p.Gln84Arg) rs373811074 0.00052
NM_001379286.1(ZNF423):c.2876C>T (p.Thr959Met) rs200057861 0.00052
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741 0.00041
NM_198994.3(TGM6):c.38G>A (p.Arg13Gln) rs201694328 0.00027
NM_001134831.2(AHI1):c.221T>A (p.Ile74Asn) rs370059449 0.00021
NM_003383.5(VLDLR):c.1132T>C (p.Tyr378His) rs142885301 0.00021
NM_001379286.1(ZNF423):c.1325C>T (p.Ala442Val) rs142517429 0.00019
NM_022464.5(SIL1):c.310C>G (p.Leu104Val) rs150892227 0.00018
NM_032856.5(WDR73):c.354T>G (p.Asp118Glu) rs201827208 0.00016
NM_001382391.1(CSPP1):c.2629C>T (p.Arg877Cys) rs199521775 0.00014
NM_001134831.2(AHI1):c.2962-3T>C rs369713977 0.00013
NM_001379286.1(ZNF423):c.1193C>T (p.Pro398Leu) rs112570445 0.00011
NM_022464.5(SIL1):c.103C>G (p.Leu35Val) rs759591537 0.00011
NM_022464.5(SIL1):c.724G>A (p.Val242Met) rs545999438 0.00010
NM_014363.6(SACS):c.1026A>T (p.Lys342Asn) rs190623423 0.00008
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_022464.5(SIL1):c.1022C>T (p.Thr341Met) rs372399027 0.00008
NM_000784.4(CYP27A1):c.425T>C (p.Leu142Pro) rs369363177 0.00006
NM_003383.5(VLDLR):c.1041G>C (p.Trp347Cys) rs114872818 0.00006
NM_004715.5(CTDP1):c.431C>T (p.Pro144Leu) rs758618193 0.00006
NM_014363.6(SACS):c.12190C>A (p.Pro4064Thr) rs200707453 0.00006
NM_014363.6(SACS):c.2776A>G (p.Ile926Val) rs144362131 0.00006
NM_001044385.3(TMEM237):c.42+1G>A rs1378726802 0.00005
NM_198994.3(TGM6):c.1528G>C (p.Asp510His) rs201964784 0.00005
NM_000784.4(CYP27A1):c.1025A>G (p.Asn342Ser) rs778458082 0.00004
NM_001379286.1(ZNF423):c.2738G>A (p.Arg913Gln) rs777432098 0.00004
NM_014363.6(SACS):c.8315G>C (p.Gly2772Ala) rs763504656 0.00004
NM_015215.4(CAMTA1):c.4478C>T (p.Ala1493Val) rs147636995 0.00004
NM_022464.5(SIL1):c.1088A>C (p.Gln363Pro) rs563414935 0.00004
NM_022464.5(SIL1):c.623A>C (p.Asp208Ala) rs145709743 0.00004
NM_001382391.1(CSPP1):c.1218G>C (p.Ala406=) rs752326108 0.00003
NM_001382391.1(CSPP1):c.2920G>A (p.Ala974Thr) rs767140972 0.00003
NM_014363.6(SACS):c.8990G>A (p.Arg2997Gln) rs139670073 0.00003
NM_015378.4(VPS13D):c.10169G>A (p.Arg3390Gln) rs769010867 0.00003
NM_001134831.2(AHI1):c.1405T>C (p.Cys469Arg) rs539194432 0.00002
NM_001382391.1(CSPP1):c.1372A>G (p.Thr458Ala) rs533327313 0.00002
NM_001382391.1(CSPP1):c.800G>A (p.Arg267His) rs781737308 0.00002
NM_003047.5(SLC9A1):c.856G>A (p.Val286Met) rs764274123 0.00002
NM_014363.6(SACS):c.13694C>A (p.Ala4565Asp) rs375722463 0.00002
NM_014363.6(SACS):c.2791A>T (p.Asn931Tyr) rs190383030 0.00002
NM_001114748.2(TMEM240):c.35T>C (p.Ile12Thr) rs1223225659 0.00001
NM_001379286.1(ZNF423):c.3322G>A (p.Ala1108Thr) rs778755872 0.00001
NM_001382391.1(CSPP1):c.303+3A>T rs920556156 0.00001
NM_014053.4(FLVCR1):c.1413G>A (p.Gln471=) rs1391075754 0.00001
NM_014363.6(SACS):c.1004C>T (p.Ser335Leu) rs767435985 0.00001
NM_014363.6(SACS):c.561C>T (p.Val187=) rs758653462 0.00001
NM_014363.6(SACS):c.5732C>T (p.Thr1911Met) rs368494148 0.00001
NM_014363.6(SACS):c.7306A>C (p.Ile2436Leu) rs567650774 0.00001
NM_018718.3(CEP41):c.1004G>A (p.Arg335Lys) rs782672149 0.00001
NM_001020658.2(PUM1):c.1297G>A (p.Ala433Thr)
NM_001044385.3(TMEM237):c.889T>C (p.Ser297Pro)
NM_001114748.2(TMEM240):c.217G>A (p.Ala73Thr)
NM_001114748.2(TMEM240):c.328G>A (p.Val110Ile)
NM_001128164.2(ATXN1):c.1502C>T (p.Ala501Val)
NM_001130698.2(TRPC3):c.857C>G (p.Ser286Trp)
NM_001134831.2(AHI1):c.1868T>C (p.Ile623Thr)
NM_001142633.3(PIK3R5):c.2338GTG[1] (p.Val781del)
NM_001142633.3(PIK3R5):c.2354A>G (p.Asn785Ser)
NM_001142633.3(PIK3R5):c.2555C>T (p.Thr852Met)
NM_001271696.3(ABCB7):c.1106A>G (p.Lys369Arg)
NM_001365792.1(DAB1):c.122G>A (p.Arg41Gln)
NM_001365792.1(DAB1):c.43G>A (p.Ala15Thr)
NM_001365792.1(DAB1):c.718G>C (p.Val240Leu)
NM_001372574.1(ATXN2):c.1648C>G (p.Pro550Ala)
NM_001379286.1(ZNF423):c.1688C>T (p.Pro563Leu)
NM_001379286.1(ZNF423):c.2532G>A (p.Ala844=)
NM_001379286.1(ZNF423):c.376A>G (p.Met126Val) rs150427822
NM_001379286.1(ZNF423):c.3812A>G (p.Gln1271Arg) rs2151705854
NM_001382391.1(CSPP1):c.-128C>T rs775895663
NM_001382391.1(CSPP1):c.3330+2T>C
NM_001382391.1(CSPP1):c.3641G>A (p.Gly1214Asp)
NM_001447.3(FAT2):c.10111A>G (p.Ile3371Val)
NM_001447.3(FAT2):c.11435C>T (p.Thr3812Ile)
NM_001447.3(FAT2):c.11792C>T (p.Thr3931Met)
NM_001447.3(FAT2):c.12337A>G (p.Asn4113Asp)
NM_001447.3(FAT2):c.3781G>C (p.Gly1261Arg)
NM_001961.4(EEF2):c.1130C>T (p.Pro377Leu)
NM_003047.5(SLC9A1):c.644G>A (p.Gly215Asp)
NM_003383.5(VLDLR):c.1213A>C (p.Ile405Leu)
NM_003383.5(VLDLR):c.2582C>G (p.Pro861Arg)
NM_003383.5(VLDLR):c.311G>T (p.Ser104Ile)
NM_003383.5(VLDLR):c.449-112G>A
NM_003383.5(VLDLR):c.772T>C (p.Cys258Arg)
NM_004715.5(CTDP1):c.1023A>G (p.Arg341=)
NM_004715.5(CTDP1):c.398A>G (p.Gln133Arg)
NM_004977.3(KCNC3):c.1627G>A (p.Gly543Ser)
NM_004977.3(KCNC3):c.1876G>C (p.Gly626Arg) rs368232448
NM_004977.3(KCNC3):c.1903G>A (p.Gly635Arg)
NM_004977.3(KCNC3):c.2014C>G (p.Leu672Val)
NM_004977.3(KCNC3):c.2143C>T (p.Pro715Ser)
NM_004977.3(KCNC3):c.98C>G (p.Pro33Arg)
NM_006297.3(XRCC1):c.352C>T (p.Arg118Trp)
NM_006297.3(XRCC1):c.89dup (p.Tyr30Ter)
NM_014363.6(SACS):c.10126G>A (p.Ala3376Thr)
NM_014363.6(SACS):c.11066C>T (p.Pro3689Leu)
NM_014363.6(SACS):c.11291A>C (p.Glu3764Ala) rs1593122374
NM_014363.6(SACS):c.11679_11681delinsTAG (p.Lys3894Arg)
NM_014363.6(SACS):c.11792A>G (p.Lys3931Arg) rs764554878
NM_014363.6(SACS):c.11826G>T (p.Met3942Ile)
NM_014363.6(SACS):c.11965G>T (p.Val3989Phe)
NM_014363.6(SACS):c.1990C>T (p.Leu664Phe)
NM_014363.6(SACS):c.4018T>C (p.Tyr1340His)
NM_014363.6(SACS):c.4106A>G (p.Asn1369Ser)
NM_014363.6(SACS):c.470A>G (p.Tyr157Cys)
NM_014363.6(SACS):c.7222G>A (p.Asp2408Asn)
NM_014363.6(SACS):c.8647G>A (p.Val2883Met)
NM_014363.6(SACS):c.9108A>C (p.Gln3036His)
NM_014687.4(RUBCN):c.1474-5G>T
NM_014687.4(RUBCN):c.2284G>T (p.Val762Phe)
NM_015160.3(PMPCA):c.1099G>A (p.Val367Met)
NM_015160.3(PMPCA):c.71+3G>A
NM_015215.4(CAMTA1):c.1024G>A (p.Glu342Lys)
NM_015215.4(CAMTA1):c.1105G>A (p.Asp369Asn)
NM_015215.4(CAMTA1):c.1378G>A (p.Val460Met)
NM_015215.4(CAMTA1):c.1690G>A (p.Ala564Thr)
NM_015215.4(CAMTA1):c.1927G>A (p.Val643Met)
NM_015215.4(CAMTA1):c.2210C>T (p.Pro737Leu)
NM_015215.4(CAMTA1):c.2605C>T (p.Arg869Trp)
NM_015215.4(CAMTA1):c.2687A>G (p.Gln896Arg)
NM_015215.4(CAMTA1):c.2907G>A (p.Ser969=)
NM_015215.4(CAMTA1):c.4435G>T (p.Val1479Phe)
NM_015215.4(CAMTA1):c.4511G>A (p.Ser1504Asn)
NM_015215.4(CAMTA1):c.4666C>T (p.Arg1556Cys)
NM_015215.4(CAMTA1):c.646G>T (p.Gly216Trp)
NM_015215.4(CAMTA1):c.782A>G (p.Asn261Ser)
NM_015378.4(VPS13D):c.5455G>A (p.Val1819Met)
NM_015378.4(VPS13D):c.602C>G (p.Ala201Gly)
NM_016529.6(ATP8A2):c.-1016T>A
NM_016529.6(ATP8A2):c.1474C>G (p.Pro492Ala)
NM_016529.6(ATP8A2):c.2059G>T (p.Val687Phe)
NM_016529.6(ATP8A2):c.2831C>T (p.Pro944Leu)
NM_018075.5(ANO10):c.130A>G (p.Lys44Glu)
NM_020247.5(COQ8A):c.220G>A (p.Gly74Ser) rs778948697
NM_020247.5(COQ8A):c.605G>A (p.Arg202Gln)
NM_021814.5(ELOVL5):c.332G>A (p.Arg111His)
NM_021814.5(ELOVL5):c.694T>C (p.Leu232=)
NM_022464.5(SIL1):c.-10-18951A>G
NM_022464.5(SIL1):c.1031T>C (p.Met344Thr)
NM_022464.5(SIL1):c.1036G>A (p.Ala346Thr) rs377150029
NM_022464.5(SIL1):c.1036G>C (p.Ala346Pro)
NM_022464.5(SIL1):c.1094G>A (p.Arg365His)
NM_022464.5(SIL1):c.1099G>A (p.Val367Ile)
NM_022464.5(SIL1):c.1160C>T (p.Ala387Val)
NM_022464.5(SIL1):c.1168G>A (p.Glu390Lys)
NM_022464.5(SIL1):c.1168G>C (p.Glu390Gln)
NM_022464.5(SIL1):c.1180C>T (p.Arg394Cys)
NM_022464.5(SIL1):c.1231C>G (p.Arg411Gly)
NM_022464.5(SIL1):c.1237C>T (p.Arg413Cys)
NM_022464.5(SIL1):c.1238G>A (p.Arg413His)
NM_022464.5(SIL1):c.1255G>A (p.Gly419Ser) rs398124389
NM_022464.5(SIL1):c.1261A>G (p.Thr421Ala)
NM_022464.5(SIL1):c.1330G>T (p.Gly444Cys)
NM_022464.5(SIL1):c.1342G>A (p.Glu448Lys)
NM_022464.5(SIL1):c.1364G>A (p.Ser455Asn)
NM_022464.5(SIL1):c.175G>A (p.Glu59Lys)
NM_022464.5(SIL1):c.181G>A (p.Glu61Lys)
NM_022464.5(SIL1):c.185T>A (p.Leu62Gln)
NM_022464.5(SIL1):c.193G>A (p.Glu65Lys)
NM_022464.5(SIL1):c.215C>T (p.Pro72Leu)
NM_022464.5(SIL1):c.218C>T (p.Thr73Met)
NM_022464.5(SIL1):c.232G>T (p.Ala78Ser)
NM_022464.5(SIL1):c.31A>G (p.Met11Val)
NM_022464.5(SIL1):c.388G>A (p.Asp130Asn)
NM_022464.5(SIL1):c.430A>G (p.Met144Val)
NM_022464.5(SIL1):c.432G>T (p.Met144Ile)
NM_022464.5(SIL1):c.475C>T (p.Arg159Trp)
NM_022464.5(SIL1):c.476G>A (p.Arg159Gln)
NM_022464.5(SIL1):c.484C>T (p.Arg162Cys)
NM_022464.5(SIL1):c.526G>T (p.Val176Phe)
NM_022464.5(SIL1):c.550A>G (p.Ile184Val)
NM_022464.5(SIL1):c.559C>T (p.Arg187Trp)
NM_022464.5(SIL1):c.635A>G (p.Tyr212Cys)
NM_022464.5(SIL1):c.644A>G (p.Gln215Arg)
NM_022464.5(SIL1):c.653A>G (p.Asn218Ser)
NM_022464.5(SIL1):c.674T>C (p.Phe225Ser)
NM_022464.5(SIL1):c.697A>G (p.Asn233Asp)
NM_022464.5(SIL1):c.754G>A (p.Ala252Thr)
NM_022464.5(SIL1):c.766A>G (p.Ser256Gly)
NM_022464.5(SIL1):c.82T>C (p.Phe28Leu)
NM_022464.5(SIL1):c.913C>T (p.Arg305Trp)
NM_022464.5(SIL1):c.985G>A (p.Ala329Thr)
NM_024411.5(PDYN):c.718T>A (p.Ser240Thr)
NM_032856.5(WDR73):c.1106G>A (p.Trp369Ter)
NM_032856.5(WDR73):c.346G>A (p.Asp116Asn)
NM_032856.5(WDR73):c.643C>T (p.Arg215Cys)
NM_032856.5(WDR73):c.745C>T (p.Arg249Cys)
NM_032856.5(WDR73):c.875C>T (p.Ala292Val)
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[3] (p.309DGTRSQ[3]) rs11267906
NM_033064.5(ATCAY):c.-41-1022G>A
NM_033064.5(ATCAY):c.1043A>G (p.Glu348Gly)
NM_173500.4(TTBK2):c.820C>A (p.Gln274Lys)
NM_198994.3(TGM6):c.491T>A (p.Ile164Asn)
NM_198994.3(TGM6):c.538G>A (p.Gly180Arg)
NM_198994.3(TGM6):c.730G>A (p.Gly244Ser)
NM_198994.3(TGM6):c.897del (p.Ser300fs)

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