ClinVar Miner

List of variants reported as pathogenic for generalized dystonia

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000113.3(TOR1A):c.863G>A (p.Arg288Gln) rs727502811 0.00006
NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter) rs760768475 0.00003
NM_018105.3(THAP1):c.266A>G (p.Lys89Arg) rs267607111 0.00001
NC_000008.10:g.(?_42693105)_(42698237_?)del
NM_000113.3(TOR1A):c.214C>T (p.Gln72Ter) rs2131007486
NM_000113.3(TOR1A):c.461G>A (p.Trp154Ter) rs2131004790
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del) rs80358233
NM_000113.3(TOR1A):c.958A>G (p.Lys320Glu) rs2131001171
NM_014727.3(KMT2B):c.6517_6518insA (p.Arg2173fs) rs1599695744
NM_018105.2(THAP1):c.270_273del rs749414480
NM_018105.3(THAP1):c.100_101insCA (p.Lys34fs)
NM_018105.3(THAP1):c.108G>A (p.Trp36Ter) rs2128918637
NM_018105.3(THAP1):c.112del (p.Ala38fs) rs1586457084
NM_018105.3(THAP1):c.115_116insGGCCGGGAGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGTCANNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAAGAATGGGAGGCAG (p.Ala38_Ala39insGlyProGlyAlaValAlaHisAlaCysAsnProSerThrLeuGlyGlyArgGlyGlyArgIleThrArgSerXaaXaaXaaXaaLysLysLysLysLysLysLysGluTrpGluAla)
NM_018105.3(THAP1):c.11C>T (p.Ser4Phe)
NM_018105.3(THAP1):c.131del (p.Asn44fs) rs1554599712
NM_018105.3(THAP1):c.134T>G (p.Phe45Cys)
NM_018105.3(THAP1):c.135_139delinsGGGTTTA (p.Phe45fs) rs1586457060
NM_018105.3(THAP1):c.197_198del (p.Glu66fs) rs1802672249
NM_018105.3(THAP1):c.1A>T (p.Met1Leu) rs2128919290
NM_018105.3(THAP1):c.201CAA[2] (p.Asn69del) rs1563644810
NM_018105.3(THAP1):c.241T>C (p.Phe81Leu) rs118204013
NM_018105.3(THAP1):c.25G>T (p.Gly9Cys) rs267607112
NM_018105.3(THAP1):c.289C>T (p.Gln97Ter) rs1554599616
NM_018105.3(THAP1):c.2T>C (p.Met1Thr) rs1563646198
NM_018105.3(THAP1):c.2del (p.Met1fs)
NM_018105.3(THAP1):c.305dup (p.Pro103fs) rs1563644456
NM_018105.3(THAP1):c.331C>T (p.Gln111Ter) rs1586456404
NM_018105.3(THAP1):c.348del (p.Ile116fs) rs2128918456
NM_018105.3(THAP1):c.388_389del (p.Val131fs) rs1586456350
NM_018105.3(THAP1):c.389C>G (p.Ser130Ter)
NM_018105.3(THAP1):c.460del (p.Gln154fs) rs1586456293
NM_018105.3(THAP1):c.474del (p.Lys158fs) rs1586456278
NM_018105.3(THAP1):c.482_485del (p.Lys161fs) rs2128918440
NM_018105.3(THAP1):c.68A>C (p.His23Pro) rs387907177
NM_018105.3(THAP1):c.70A>G (p.Lys24Glu) rs387907176
NM_018105.3(THAP1):c.71del (p.Lys24fs) rs1802756440
NM_018105.3(THAP1):c.7C>T (p.Gln3Ter) rs1554599983
NM_018105.3(THAP1):c.85C>T (p.Arg29Ter) rs2128918641

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.