ClinVar Miner

List of variants studied for TH-deficient dopa-responsive dystonia by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
Download table as spreadsheet
HGVS dbSNP
NM_000207.3(INS):c.-17-6T>A rs689
NM_000207.3(INS):c.-18+4_-18+5insTTGC rs3842740
NM_000207.3(INS):c.-9C>T rs5505
NM_000207.3(INS):c.187+11T>C rs5506
NM_000207.3(INS):c.36G>A (p.Ala12=) rs3842744
NM_001042376.3(INS-IGF2):c.187+942C>T rs3842752
NM_001042376.3(INS-IGF2):c.187+955A>C rs3842753
NM_199292.3(TH):c.*109G>A rs886048113
NM_199292.3(TH):c.*277G>A rs3842725
NM_199292.3(TH):c.*52C>T rs570989291
NM_199292.3(TH):c.-18G>A rs370306636
NM_199292.3(TH):c.1070+8C>G rs12419447
NM_199292.3(TH):c.1128G>T (p.Ala376=) rs11826260
NM_199292.3(TH):c.1162G>A (p.Gly388Arg) rs886048114
NM_199292.3(TH):c.1198-5C>G rs535794692
NM_199292.3(TH):c.1263C>G (p.Ala421=) rs199839852
NM_199292.3(TH):c.1371G>A (p.Thr457=) rs36097848
NM_199292.3(TH):c.1461C>T (p.Ser487=) rs45538536
NM_199292.3(TH):c.1493A>G (p.Asp498Gly) rs771351747
NM_199292.3(TH):c.1494C>T (p.Asp498=) rs3842724
NM_199292.3(TH):c.1563C>G (p.Ala521=) rs777477661
NM_199292.3(TH):c.208C>G (p.Gln70Glu) rs886048115
NM_199292.3(TH):c.279G>A (p.Ser93=) rs34510659
NM_199292.3(TH):c.303T>C (p.Ala101=) rs7950050
NM_199292.3(TH):c.334G>A (p.Val112Met) rs6356
NM_199292.3(TH):c.345G>A (p.Leu115=) rs758016812
NM_199292.3(TH):c.356C>T (p.Pro119Leu) rs150260759
NM_199292.3(TH):c.360G>A (p.Arg120=) rs76240471
NM_199292.3(TH):c.406-9C>T rs538345855
NM_199292.3(TH):c.44G>A (p.Arg15His) rs199648386
NM_199292.3(TH):c.453G>A (p.Arg151=) rs761868828
NM_199292.3(TH):c.456G>A (p.Pro152=) rs370429316
NM_199292.3(TH):c.491G>A (p.Arg164His) rs376881948
NM_199292.3(TH):c.499G>A (p.Val167Met) rs142046543
NM_199292.3(TH):c.5C>T (p.Pro2Leu) rs139474171
NM_199292.3(TH):c.698G>A (p.Arg233His) rs80338892
NM_199292.3(TH):c.720C>G (p.Ile240Met) rs202149985
NM_199292.3(TH):c.769G>A (p.Ala257Thr) rs549188961
NM_199292.3(TH):c.777G>A (p.Glu259=) rs11564716
NM_199292.3(TH):c.813G>A (p.Lys271=) rs6357
NM_199292.3(TH):c.934+12C>T rs368489295
NM_199292.3(TH):c.990C>T (p.Phe330=) rs76719766

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.