ClinVar Miner

List of variants reported as likely pathogenic for Torsion dystonia 6

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Total variants: 9
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HGVS dbSNP
NM_018105.3(THAP1):c.14G>A (p.Cys5Tyr) rs1586459413
NM_018105.3(THAP1):c.25G>A (p.Gly9Ser) rs267607112
NM_018105.3(THAP1):c.268-1G>C
NM_018105.3(THAP1):c.2T>C (p.Met1Thr) rs1563646198
NM_018105.3(THAP1):c.387_399del (p.Ser130fs)
NM_018105.3(THAP1):c.505C>T (p.Arg169Ter) rs1131691345
NM_018105.3(THAP1):c.62C>T (p.Ser21Phe) rs1064797344
NM_018105.3(THAP1):c.77C>T (p.Pro26Leu)
NM_018105.3(THAP1):c.86G>C (p.Arg29Pro)

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