ClinVar Miner

List of variants reported for Essential tremor by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_003241.4(TGM4):c.806G>A (p.Trp269Ter) rs139860990 0.00762
NM_194251.3(GPR151):c.283C>T (p.Arg95Ter) rs114285050 0.00569
NM_144666.3(DNHD1):c.2839G>T (p.Glu947Ter) rs180918289 0.00295
NM_032423.3(ZNF528):c.1282C>T (p.Arg428Ter) rs150257846 0.00231
NM_001039374.5(CCDC183):c.1025G>A (p.Trp342Ter) rs749875462 0.00019
NM_001005182.2(OR6C1):c.24del (p.Glu9fs) rs869294408
NM_001005516.1(OR5K3):c.904del (p.Ile302fs) rs79045298
NM_001005517.1(OR5K4):c.901dup (p.Ile301fs) rs11288615
NM_001145710.2(FAM228B):c.907del (p.Gln303fs) rs113322110
NM_002425.3(MMP10):c.32_33del (p.Cys11fs) rs535864157
NM_004999.4(MYO6):c.2751dup (p.Gln918fs) rs551348450
NM_015465.5(GEMIN5):c.2519_2522del (p.Ile840fs) rs769616395
NM_032597.5(MS4A14):c.167_168dup (p.Val57fs) rs869040615
NM_181536.2(PKD1L3):c.3695_3698del (p.Thr1232fs) rs149635567
NM_183375.5(PRSS48):c.127_131del (p.Val43fs) rs77216366

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