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_000360.3(TH):c.679G>A (p.Glu227Lys) rs536382000
NM_199292.2(TH):c.-69T>A rs1554924394
NM_199292.2(TH):c.100C>T (p.Gln34Ter) rs1554924321
NM_199292.2(TH):c.1010G>A (p.Arg337His) rs28934580
NM_199292.2(TH):c.102+1G>A rs77140743
NM_199292.2(TH):c.102+1G>T rs77140743
NM_199292.2(TH):c.103-1G>A rs1554924111
NM_199292.2(TH):c.103-2A>C rs1554924114
NM_199292.2(TH):c.106_117del12 (p.Ala36_Pro39del) rs1554924102
NM_199292.2(TH):c.110C>T (p.Pro37Leu) rs775961364
NM_199292.2(TH):c.1145T>C (p.Ile382Thr) rs1554922725
NM_199292.2(TH):c.1222G>A (p.Gly408Arg) rs745551241
NM_199292.2(TH):c.1293+5G>C rs774895306
NM_199292.2(TH):c.131C>T (p.Ser44Phe) rs1313952475
NM_199292.2(TH):c.1394C>G (p.Ser465Cys) rs767211543
NM_199292.2(TH):c.1428-1G>A rs1554922200
NM_199292.2(TH):c.1475C>G (p.Pro492Arg) rs767635052
NM_199292.2(TH):c.164C>T (p.Ser55Phe) rs1195830888
NM_199292.2(TH):c.183+1G>A rs753403788
NM_199292.2(TH):c.692G>C (p.Arg231Pro) rs201224335
NM_199292.2(TH):c.718_729del12 (p.Ile240_Gln243del) rs1554923325
NM_199292.2(TH):c.721G>A (p.Ala241Thr) rs1260455415
NM_199292.2(TH):c.842A>T (p.Glu281Val) rs878855309
NM_199292.2(TH):c.880G>C (p.Gly294Arg) rs755536257
NM_199292.2(TH):c.91G>T (p.Val31Leu) rs1554924329
NM_199292.2(TH):c.92_93dup (p.Arg32Terfs) rs1554924328
NM_199292.2(TH):c.941C>T (p.Thr314Met) rs121917764
NM_199292.2(TH):c.99dup (p.Gln34Alafs) rs780485650

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