ClinVar Miner

List of variants reported as likely pathogenic for Torsion dystonia 6

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_018105.3(THAP1):c.238A>G (p.Ile80Val) rs372080941 0.00003
NM_018105.3(THAP1):c.14G>A (p.Cys5Tyr) rs1586459413
NM_018105.3(THAP1):c.190_191del (p.Lys64fs)
NM_018105.3(THAP1):c.25G>A (p.Gly9Ser) rs267607112
NM_018105.3(THAP1):c.268-1G>C rs1802654414
NM_018105.3(THAP1):c.387_399del (p.Ser130fs) rs1802650847
NM_018105.3(THAP1):c.46A>G (p.Lys16Glu)
NM_018105.3(THAP1):c.482_485del (p.Lys161fs) rs2128918440
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) rs1802674870
NM_018105.3(THAP1):c.85C>T (p.Arg29Ter) rs2128918641
NM_018105.3(THAP1):c.86G>C (p.Arg29Pro) rs767952378

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