ClinVar Miner

List of variants reported as likely pathogenic for Dystonia

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Total variants: 9
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HGVS dbSNP
NC_000011.10:g.(?_2166470)_(2168675_?)del
NM_000271.5(NPC1):c.2050C>T (p.Leu684Phe) rs1057518942
NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly) rs113371321
NM_000360.4(TH):c.1141C>A (p.Gln381Lys) rs121917762
NM_000360.4(TH):c.645-2A>G rs1590168368
NM_000360.4(TH):c.692C>G (p.Thr231Ser) rs1590168246
NM_018105.3(THAP1):c.19G>A (p.Ala7Thr) rs1586459408
NM_031418.4(ANO3):c.1528G>A (p.Glu510Lys) rs1590612392
NM_153638.3(PANK2):c.1432A>G (p.Lys478Glu) rs559623184

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