ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_000360.4(TH):c.1052T>C (p.Ile351Thr) rs1554922725
NM_000360.4(TH):c.1129G>A (p.Gly377Arg) rs745551241
NM_000360.4(TH):c.1200+5G>C rs774895306
NM_000360.4(TH):c.1301C>G (p.Ser434Cys) rs767211543
NM_000360.4(TH):c.1335-1G>A rs1554922200
NM_000360.4(TH):c.1382C>G (p.Pro461Arg) rs767635052
NM_000360.4(TH):c.599G>C (p.Arg200Pro) rs201224335
NM_000360.4(TH):c.625_636del (p.Ile209_Gln212del) rs1554923325
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000
NM_000360.4(TH):c.749A>T (p.Glu250Val) rs878855309
NM_000360.4(TH):c.787G>C (p.Gly263Arg) rs755536257
NM_000360.4(TH):c.848C>T (p.Thr283Met) rs121917764
NM_000360.4(TH):c.90+10C>T rs1554924321
NM_000360.4(TH):c.90+13G>A rs77140743
NM_000360.4(TH):c.90+13G>T rs77140743
NM_000360.4(TH):c.90+1G>T rs1554924329
NM_000360.4(TH):c.90+2_90+3dup rs1554924328
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.91-818G>A rs753403788
NM_000360.4(TH):c.91-838C>T rs1195830888
NM_000360.4(TH):c.91-871C>T rs1313952475
NM_000360.4(TH):c.91-892C>T rs775961364
NM_000360.4(TH):c.91-896_91-885del rs1554924102
NM_000360.4(TH):c.91-900G>A rs1554924111
NM_000360.4(TH):c.91-901A>C rs1554924114
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_199292.2(TH):c.-69T>A rs1554924394

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