ClinVar Miner

List of variants reported as uncertain significance for cerebellar ataxia by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (255):
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ClinVar version:
Total variants: 48
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HGVS dbSNP gnomAD frequency
NM_014687.4(RUBCN):c.593C>T (p.Pro198Leu) rs145980033 0.00420
NM_001080414.4(CCDC88C):c.5251G>A (p.Val1751Ile) rs142295786 0.00150
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_182961.4(SYNE1):c.14263C>T (p.Leu4755Phe) rs41301343 0.00100
NM_003194.5(TBP):c.221_222insGC (p.Gln75fs) rs1290125655 0.00082
NM_018896.5(CACNA1G):c.1931G>A (p.Cys644Tyr) rs200203979 0.00043
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_016529.6(ATP8A2):c.2333G>A (p.Arg778Gln) rs202017613 0.00036
NM_182961.4(SYNE1):c.16831C>T (p.Arg5611Trp) rs369292604 0.00017
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_016529.6(ATP8A2):c.3439C>T (p.Arg1147Trp) rs371560228 0.00008
NM_182961.4(SYNE1):c.21706G>A (p.Ala7236Thr) rs202121741 0.00006
NM_018896.5(CACNA1G):c.3278C>T (p.Pro1093Leu) rs1422686570 0.00004
NM_001378615.1(CC2D2A):c.2323G>A (p.Glu775Lys) rs751808973 0.00003
NM_003383.5(VLDLR):c.692G>A (p.Arg231His) rs767529669 0.00003
NM_014630.3(ZNF592):c.2731G>A (p.Val911Ile) rs1211858750 0.00003
NM_198994.3(TGM6):c.674T>G (p.Val225Gly) rs1461093480 0.00003
NM_003047.5(SLC9A1):c.856G>A (p.Val286Met) rs764274123 0.00002
NM_006796.3(AFG3L2):c.571G>A (p.Val191Ile) rs1373473541 0.00002
NM_006946.4(SPTBN2):c.6739T>C (p.Tyr2247His) rs201138924 0.00002
NM_018896.5(CACNA1G):c.344G>A (p.Arg115Gln) rs781240948 0.00002
NM_001001344.3(ATP2B3):c.3284G>A (p.Arg1095Gln) rs782067205 0.00001
NM_007254.4(PNKP):c.1052C>T (p.Pro351Leu) rs797045891 0.00001
NM_015215.4(CAMTA1):c.2974G>A (p.Glu992Lys) rs774307423 0.00001
NM_001127222.2(CACNA1A):c.3006_3008del (p.Arg1004del) rs763302316
NM_001127222.2(CACNA1A):c.3310_3315dup (p.Gly1104_Pro1105dup) rs776584949
NM_001130823.3(DNMT1):c.650A>G (p.Asp217Gly) rs1568249130
NM_001377405.1(ATXN7):c.112_113insCGCCGC (p.Gln37_Gln38insProPro) rs1216716369
NM_001377405.1(ATXN7):c.1594G>A (p.Gly532Ser) rs991657534
NM_001378615.1(CC2D2A):c.3841T>C (p.Phe1281Leu) rs1560192615
NM_006297.3(XRCC1):c.764AGA[1] (p.Lys256del) rs777476390
NM_014053.4(FLVCR1):c.1235G>C (p.Gly412Ala) rs775587493
NM_014630.3(ZNF592):c.2161C>T (p.Arg721Trp) rs746252249
NM_015046.7(SETX):c.5024del (p.Pro1675fs) rs1554820021
NM_015378.4(VPS13D):c.7196G>T (p.Arg2399Leu) rs201376188
NM_018896.5(CACNA1G):c.4151G>A (p.Arg1384Gln) rs1260560600
NM_018896.5(CACNA1G):c.4972T>C (p.Ser1658Pro) rs1555565684
NM_018896.5(CACNA1G):c.544G>C (p.Val182Leu) rs1567964995
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_153816.6(SNX14):c.2447G>A (p.Arg816Gln) rs936843937
NM_173500.4(TTBK2):c.3584_3601del (p.Ser1195_Arg1201delinsTrp) rs1566996154
NM_181675.4(PPP2R2B):c.119C>T (p.Ala40Val) rs1554126530
NM_182961.4(SYNE1):c.11083-4A>G rs764920428
NM_182961.4(SYNE1):c.1376A>C (p.His459Pro) rs1593394821
NM_182961.4(SYNE1):c.1447G>A (p.Glu483Lys) rs1554768095
NM_182961.4(SYNE1):c.25717A>G (p.Lys8573Glu) rs1562922141
NM_182961.4(SYNE1):c.3674A>G (p.Glu1225Gly) rs1564070652
NM_182961.4(SYNE1):c.4329G>T (p.Met1443Ile) rs1245972676

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