ClinVar Miner

List of variants reported as pathogenic for spastic ataxia by OMIM

Included ClinVar conditions (21):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_016035.5(COQ4):c.376G>A (p.Glu126Lys) rs149398860 0.00030
NM_016035.5(COQ4):c.202+4A>C rs777821562 0.00003
NM_016035.5(COQ4):c.304C>T (p.Arg102Cys) rs371984550 0.00003
NM_016035.5(COQ4):c.370G>A (p.Gly124Ser) rs776825296 0.00003
NM_016035.5(COQ4):c.473G>A (p.Arg158Gln) rs779805523 0.00003
NM_014363.6(SACS):c.7504C>T (p.Arg2502Ter) rs281865118 0.00002
NM_016035.5(COQ4):c.533G>A (p.Gly178Glu) rs754865584 0.00002
NM_006612.6(KIF1C):c.505C>T (p.Arg169Trp) rs587777198 0.00001
NM_006796.3(AFG3L2):c.1385C>T (p.Ala462Val) rs912546325 0.00001
NM_006796.3(AFG3L2):c.1847A>G (p.Tyr616Cys) rs387906889 0.00001
NM_014363.6(SACS):c.8844del (p.Ile2949fs) rs281865117 0.00001
NM_016035.5(COQ4):c.305G>A (p.Arg102His) rs929713295 0.00001
NM_018109.4(MTPAP):c.1432A>G (p.Asn478Asp) rs267606900 0.00001
MARS2, DUP2
NC_000017.10:g.(4907452_4914761)_(4918508_4926045)del
NM_006612.6(KIF1C):c.183G>A (p.Ser61=) rs886041035
NM_006612.6(KIF1C):c.2191C>T (p.Arg731Ter) rs587777197
NM_006796.3(AFG3L2):c.1858C>A (p.Gln620Lys) rs1907907851
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile) rs727502823
NM_006796.3(AFG3L2):c.1901_1902del (p.Val633_Ser634insTer) rs1907906060
NM_006796.3(AFG3L2):c.245dup (p.Asn82fs)
NM_006796.3(AFG3L2):c.916A>G (p.Lys306Glu) rs1908569446
NM_007236.5(CHP1):c.52AAG[1] (p.Lys19del) rs1310569366
NM_014231.5(VAMP1):c.340+2T>G rs878854975
NM_014363.6(SACS):c.1185_1194del (p.Cys395fs) rs2137724246
NM_014363.6(SACS):c.12220G>C (p.Ala4074Pro) rs137853016
NM_014363.6(SACS):c.2060del (p.Asp687fs) rs2137716138
NM_014363.6(SACS):c.3161T>C (p.Phe1054Ser) rs137853019
NM_014363.6(SACS):c.3328dup (p.Ile1110fs) rs770866403
NM_014363.6(SACS):c.3585del (p.Ile1195fs) rs2137634136
NM_014363.6(SACS):c.4033dup (p.Gln1345fs) rs606231163
NM_014363.6(SACS):c.5836T>C (p.Trp1946Arg) rs137853017
NM_014363.6(SACS):c.9742T>C (p.Trp3248Arg) rs137853018
NM_016035.5(COQ4):c.402+1G>C rs747779231
NM_016035.5(COQ4):c.433C>T (p.Arg145Cys)
NM_016035.5(COQ4):c.434G>A (p.Arg145His)
NM_016035.5(COQ4):c.719G>A (p.Arg240His)
NM_016035.5(COQ4):c.745C>T (p.Arg249Trp)
NM_016035.5(COQ4):c.87dup (p.Arg30Ter)
NM_016417.3(GLRX5):c.148AAG[1] (p.Lys51del) rs869320757
NM_016417.3(GLRX5):c.86_93dup (p.Ala32fs) rs869320758
NM_138395.4(MARS2):c.2_*1dup (p.Met1_Ter594=)
NM_138395.4(MARS2):c.682_949del (p.Gly228fs) rs1553608221
NM_177400.3(NKX6-2):c.121A>T (p.Lys41Ter) rs1131692047
NM_177400.3(NKX6-2):c.487C>G (p.Leu163Val) rs1131692048
NM_177400.3(NKX6-2):c.565G>T (p.Glu189Ter) rs776560015
NM_177400.3(NKX6-2):c.589C>T (p.Gln197Ter) rs1565019976
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln) rs1008088032
NM_177400.3(NKX6-2):c.606delinsTA (p.Lys202fs) rs1565019932

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