ClinVar Miner

List of variants reported as benign for Torsion dystonia 6

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_018105.3(THAP1):c.*803G>A rs59531993 0.08153
NM_018105.3(THAP1):c.*686A>G rs11557527 0.03452
NM_018105.3(THAP1):c.*455A>G rs73675436 0.03227
NM_018105.3(THAP1):c.*434A>G rs73675437 0.03226
NM_018105.3(THAP1):c.*297A>G rs73634656 0.01553
NM_018105.3(THAP1):c.*135T>A rs181850921 0.01519
NM_018105.2(THAP1):c.-237G>T rs370983900 0.01419
NM_018105.3(THAP1):c.*1157A>G rs142802423 0.00549
NM_018105.3(THAP1):c.*745G>T rs114447974 0.00310
NM_018105.3(THAP1):c.*127A>T rs369328057 0.00136
NM_018105.3(THAP1):c.*190C>A rs141658821 0.00132
NM_018105.3(THAP1):c.71+9C>A rs200209986 0.00121
NM_018105.3(THAP1):c.*1250G>A rs543106396 0.00103
NM_018105.3(THAP1):c.-48C>T rs377034494 0.00024
NM_018105.3(THAP1):c.*126T>A rs528807483 0.00021
NM_018105.3(THAP1):c.577G>A (p.Val193Ile) rs756694303 0.00015
NM_018105.3(THAP1):c.57C>T (p.Pro19=) rs146087734 0.00015
NM_018105.3(THAP1):c.489C>G (p.Leu163=) rs150542583 0.00010
NM_018105.3(THAP1):c.*65G>C rs185264166 0.00008
NM_018105.3(THAP1):c.47A>G (p.Lys16Arg) rs751550215 0.00006
NM_018105.3(THAP1):c.537A>G (p.Lys179=) rs769746038 0.00005
NM_018105.3(THAP1):c.268-4T>A rs755416189 0.00001
NM_018105.2(THAP1):c.-236A>T rs184497763
NM_018105.2(THAP1):c.-240G>A rs187837632

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