ClinVar Miner

List of variants reported as uncertain significance for TH-deficient dopa-responsive dystonia

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 55
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HGVS dbSNP
NM_199292.2(TH):c.-69T>A rs1554924394
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.100C>T (p.Gln34Ter) rs1554924321
NM_199292.3(TH):c.1010G>A (p.Arg337His) rs28934580
NM_199292.3(TH):c.102+1G>A rs77140743
NM_199292.3(TH):c.102+1G>T rs77140743
NM_199292.3(TH):c.103-1G>A rs1554924111
NM_199292.3(TH):c.103-2A>C rs1554924114
NM_199292.3(TH):c.106_117del (p.Ala36_Pro39del) rs1554924102
NM_199292.3(TH):c.110C>T (p.Pro37Leu) rs775961364
NM_199292.3(TH):c.1145T>C (p.Ile382Thr) rs1554922725
NM_199292.3(TH):c.1162G>A (p.Gly388Arg) rs886048114
NM_199292.3(TH):c.1198-5C>G rs535794692
NM_199292.3(TH):c.1222G>A (p.Gly408Arg) rs745551241
NM_199292.3(TH):c.1263C>G (p.Ala421=) rs199839852
NM_199292.3(TH):c.1293+5G>C rs774895306
NM_199292.3(TH):c.131C>T (p.Ser44Phe) rs1313952475
NM_199292.3(TH):c.1394C>G (p.Ser465Cys) rs767211543
NM_199292.3(TH):c.1428-1G>A rs1554922200
NM_199292.3(TH):c.1461C>T (p.Ser487=) rs45538536
NM_199292.3(TH):c.1475C>G (p.Pro492Arg) rs767635052
NM_199292.3(TH):c.1493A>G (p.Asp498Gly) rs771351747
NM_199292.3(TH):c.1563C>G (p.Ala521=) rs777477661
NM_199292.3(TH):c.164C>T (p.Ser55Phe) rs1195830888
NM_199292.3(TH):c.183+1G>A rs753403788
NM_199292.3(TH):c.208C>G (p.Gln70Glu) rs886048115
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.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.545T>C (p.Val182Ala) rs147569564
NM_199292.3(TH):c.5C>T (p.Pro2Leu) rs139474171
NM_199292.3(TH):c.678G>A (p.Ser226=)
NM_199292.3(TH):c.692G>C (p.Arg231Pro) rs201224335
NM_199292.3(TH):c.718_729del (p.Ile240_Gln243del) rs1554923325
NM_199292.3(TH):c.720C>G (p.Ile240Met) rs202149985
NM_199292.3(TH):c.721G>A (p.Ala241Thr) rs1260455415
NM_199292.3(TH):c.769G>A (p.Ala257Thr) rs549188961
NM_199292.3(TH):c.772G>A (p.Glu258Lys) rs536382000
NM_199292.3(TH):c.777G>A (p.Glu259=) rs11564716
NM_199292.3(TH):c.842A>T (p.Glu281Val) rs878855309
NM_199292.3(TH):c.880G>C (p.Gly294Arg) rs755536257
NM_199292.3(TH):c.91G>T (p.Val31Leu) rs1554924329
NM_199292.3(TH):c.92_93dup (p.Arg32Ter) rs1554924328
NM_199292.3(TH):c.934+12C>T rs368489295
NM_199292.3(TH):c.941C>T (p.Thr314Met) rs121917764
NM_199292.3(TH):c.990C>T (p.Phe330=) rs76719766
NM_199292.3(TH):c.99dup (p.Gln34fs) rs780485650

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