ClinVar Miner

List of variants studied for early-onset generalized limb-onset dystonia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_000113.3(TOR1A):c.246C>T (p.Ala82=) rs2296793 0.22977
NM_000113.3(TOR1A):c.*191G>T rs1182 0.16480
NM_000113.3(TOR1A):c.*824del rs3842225 0.16184
NM_000113.3(TOR1A):c.*414del rs35153737 0.14443
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_000113.3(TOR1A):c.*454T>A rs1045441 0.08368
NM_000113.3(TOR1A):c.*214C>G rs1183 0.08350
NM_000113.3(TOR1A):c.*414G>T rs199964594 0.07642
NM_000113.2(TOR1A):c.-52T>G rs114150156 0.06326
NM_000113.3(TOR1A):c.*831C>T rs77889648 0.05356
NM_000113.3(TOR1A):c.*961T>A rs79201718 0.04422
NM_000113.3(TOR1A):c.*416T>G rs186581792 0.01659
NM_000113.3(TOR1A):c.*415_*416insG rs60745320 0.00840
NM_000113.3(TOR1A):c.*193G>A rs151084518 0.00636
NM_000113.3(TOR1A):c.*1002C>T rs144267898 0.00589
NM_000113.3(TOR1A):c.*948C>T rs148723028 0.00274
NM_000113.3(TOR1A):c.26G>C (p.Gly9Ala) rs200493208 0.00265
NM_000113.3(TOR1A):c.823A>G (p.Lys275Glu) rs148036363 0.00042
NM_000113.3(TOR1A):c.561C>T (p.Leu187=) rs115847158 0.00031
NM_000113.3(TOR1A):c.488C>T (p.Ala163Val) rs142909469 0.00030
NM_000113.3(TOR1A):c.*930T>A rs144572721 0.00029
NM_000113.3(TOR1A):c.-36C>T rs28384433 0.00026
NM_000113.3(TOR1A):c.*785G>A rs147959623 0.00024
NM_000113.3(TOR1A):c.*112G>C rs75881350 0.00020
NM_000113.3(TOR1A):c.*149G>A rs886063524 0.00006
NM_000113.3(TOR1A):c.*934A>G rs760680759 0.00006
NM_000113.3(TOR1A):c.-31C>A rs367933546 0.00006
NM_000113.3(TOR1A):c.-4G>C rs769210407 0.00006
NM_000113.3(TOR1A):c.*165G>A rs886063523 0.00005
NM_000113.3(TOR1A):c.*623C>T rs886063520 0.00004
NM_000113.3(TOR1A):c.707T>C (p.Ile236Thr) rs146054409 0.00004
NM_000113.3(TOR1A):c.962C>T (p.Thr321Met) rs1476648522 0.00004
NM_000113.3(TOR1A):c.*108G>C rs1277544205 0.00003
NM_000113.3(TOR1A):c.748+10G>A rs764569880 0.00003
NM_000113.3(TOR1A):c.*201G>A rs1275657167 0.00001
NM_000113.3(TOR1A):c.*832G>A rs999329085 0.00001
NM_000113.3(TOR1A):c.*1010A>G rs886063518
NM_000113.3(TOR1A):c.*165G>T rs886063523
NM_000113.3(TOR1A):c.*216C>T rs886063522
NM_000113.3(TOR1A):c.*345C>T rs886063521
NM_000113.3(TOR1A):c.*423del rs573629050
NM_000113.3(TOR1A):c.*812C>G rs886063519
NM_000113.3(TOR1A):c.*879C>A rs1320561279
NM_000113.3(TOR1A):c.*895ATT[1] rs552432262
NM_000113.3(TOR1A):c.*997G>A rs533151187
NM_000113.3(TOR1A):c.300G>A (p.Leu100=) rs773480738
NM_000113.3(TOR1A):c.369T>C (p.Gly123=) rs2031213036
NM_000113.3(TOR1A):c.506T>C (p.Phe169Ser) rs1588216830
NM_000113.3(TOR1A):c.749-11C>A rs72755217
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233

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