ClinVar Miner

List of variants reported as uncertain significance for TH-deficient dopa-responsive dystonia by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.*277G>A rs3842725 0.00418
NM_000360.4(TH):c.1398C>T (p.Ile466=) rs118175546 0.00056
NM_000360.4(TH):c.897C>T (p.Phe299=) rs76719766 0.00054
NM_000360.4(TH):c.363G>A (p.Pro121=) rs370429316 0.00042
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392 0.00034
NM_000360.4(TH):c.406G>A (p.Val136Met) rs142046543 0.00029
NM_000360.4(TH):c.67G>A (p.Ala23Thr) rs201081519 0.00028
NM_000360.4(TH):c.1334+3G>C rs371566928 0.00024
NM_000360.4(TH):c.1368C>T (p.Ser456=) rs45538536 0.00023
NM_000360.4(TH):c.12C>T (p.Pro4=) rs147131010 0.00022
NM_000360.4(TH):c.1423G>A (p.Val475Met) rs147585774 0.00019
NM_000360.4(TH):c.679G>A (p.Glu227Lys) rs536382000 0.00017
NM_000360.4(TH):c.-18G>A rs370306636 0.00016
NM_000360.4(TH):c.*9C>T rs762091461 0.00013
NM_000360.4(TH):c.1383G>A (p.Pro461=) rs552808212 0.00011
NM_000360.4(TH):c.252G>A (p.Leu84=) rs758016812 0.00007
NM_000360.4(TH):c.*54C>T rs1008333072 0.00006
NM_000360.4(TH):c.1228C>A (p.Arg410=) rs575326605 0.00006
NM_000360.4(TH):c.263C>T (p.Pro88Leu) rs150260759 0.00006
NM_000360.4(TH):c.550G>A (p.Asp184Asn) rs139807727 0.00006
NM_000360.4(TH):c.398G>A (p.Arg133His) rs376881948 0.00005
NM_000360.4(TH):c.71A>G (p.Lys24Arg) rs768206231 0.00005
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000360.4(TH):c.1470C>G (p.Ala490=) rs777477661 0.00004
NM_000360.4(TH):c.304G>T (p.Val102Leu) rs372077622 0.00004
NM_000360.4(TH):c.599G>A (p.Arg200His) rs201224335 0.00004
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747 0.00003
NM_000360.4(TH):c.171C>T (p.Ala57=) rs771152796 0.00003
NM_000360.4(TH):c.1422C>T (p.Ala474=) rs375735482 0.00002
NM_000360.4(TH):c.360G>A (p.Arg120=) rs761868828 0.00002
NM_000360.4(TH):c.793C>G (p.Arg265Gly) rs1203763637 0.00002
NM_000360.4(TH):c.244C>G (p.Leu82Val) rs1221965870 0.00001
NM_000360.4(TH):c.393C>T (p.Phe131=) rs1239693053 0.00001
NM_000360.4(TH):c.648C>T (p.Gly216=) rs774810612 0.00001
NM_000360.4(TH):c.675C>T (p.Thr225=) rs1437906953 0.00001
NM_000360.4(TH):c.676G>A (p.Ala226Thr) rs549188961 0.00001
NM_000360.4(TH):c.841+12C>T rs368489295 0.00001
NM_000360.4(TH):c.*102C>A rs1846011369
NM_000360.4(TH):c.*109G>A rs886048113
NM_000360.4(TH):c.*135C>A rs1347143870
NM_000360.4(TH):c.*52C>T rs570989291
NM_000360.4(TH):c.1069G>A (p.Gly357Arg) rs886048114
NM_000360.4(TH):c.1105-5C>G rs535794692
NM_000360.4(TH):c.1119G>A (p.Thr373=) rs143405115
NM_000360.4(TH):c.115C>G (p.Gln39Glu) rs886048115
NM_000360.4(TH):c.1170C>G (p.Ala390=) rs199839852
NM_000360.4(TH):c.1287A>C (p.Ser429=) rs1590165106
NM_000360.4(TH):c.202C>T (p.Leu68=) rs372393199
NM_000360.4(TH):c.424G>T (p.Ala142Ser) rs770167236
NM_000360.4(TH):c.44G>A (p.Arg15His) rs199648386
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336

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