ClinVar Miner

List of variants reported as likely pathogenic for Dystonia

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Total variants: 6
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NM_000271.5(NPC1):c.2050C>T (p.Leu684Phe) rs1057518942
NM_000271.5(NPC1):c.3560C>G (p.Ala1187Gly) rs113371321
NM_031418.4(ANO3):c.1528G>A (p.Glu510Lys)
NM_199292.3(TH):c.1234C>A (p.Gln412Lys) rs121917762
NM_199292.3(TH):c.1481C>T (p.Thr494Met) rs45471299

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