ClinVar Miner

List of variants studied for Torsion dystonia 4

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_006087.4(TUBB4A):c.*111G>C rs446199 0.76464
NM_006087.4(TUBB4A):c.774T>C (p.Val258=) rs2071347 0.70114
NM_006087.4(TUBB4A):c.*673A>G rs1053377 0.57285
NM_006087.4(TUBB4A):c.*260G>C rs3099129 0.50619
NM_006087.4(TUBB4A):c.*804C>G rs1053395 0.20756
NM_006087.4(TUBB4A):c.*96C>G rs449824 0.06110
NM_006087.4(TUBB4A):c.342C>T (p.Asp114=) rs61741669 0.03618
NM_006087.4(TUBB4A):c.*400G>A rs8113500 0.03568
NM_006087.4(TUBB4A):c.*700T>A rs73920690 0.03486
NM_006087.4(TUBB4A):c.1287G>A (p.Thr429=) rs61731566 0.02245
NM_006087.4(TUBB4A):c.*627A>C rs1469859932 0.01716
NM_006087.4(TUBB4A):c.921C>T (p.His307=) rs118102196 0.01521
NM_006087.4(TUBB4A):c.*53G>A rs113953942 0.01338
NM_006087.4(TUBB4A):c.*3T>C rs150446118 0.00998
NM_006087.4(TUBB4A):c.*429C>T rs567346964 0.00380
NM_006087.4(TUBB4A):c.*493C>G rs111966371 0.00373
NM_006087.4(TUBB4A):c.906G>A (p.Ala302=) rs144969662 0.00326
NM_006087.4(TUBB4A):c.915G>A (p.Pro305=) rs149903666 0.00277
NM_006087.4(TUBB4A):c.189G>A (p.Ala63=) rs150812047 0.00251
NM_006087.4(TUBB4A):c.-62C>T rs774284850 0.00075
NM_006087.4(TUBB4A):c.*100G>A rs528792394 0.00042
NM_006087.4(TUBB4A):c.*725G>A rs370034465 0.00027
NM_006087.4(TUBB4A):c.1095G>A (p.Ala365=) rs148507956 0.00026
NM_006087.4(TUBB4A):c.1299C>T (p.Gly433=) rs142792302 0.00020
NM_006087.4(TUBB4A):c.624C>T (p.Tyr208=) rs199666595 0.00011
NM_006087.4(TUBB4A):c.*800G>A rs781702991 0.00006
NM_006087.4(TUBB4A):c.435C>T (p.Ser145=) rs200757174 0.00006
NM_006087.4(TUBB4A):c.*36C>G rs759397360 0.00003
NM_006087.4(TUBB4A):c.666C>T (p.Tyr222=) rs146906606 0.00002
NM_006087.4(TUBB4A):c.*579C>T rs143637409 0.00001
NM_006087.4(TUBB4A):c.*86G>A rs867164852 0.00001
NM_006087.4(TUBB4A):c.210C>T (p.Pro70=) rs557747150 0.00001
NM_006087.4(TUBB4A):c.*304C>T rs1914042322
NM_006087.4(TUBB4A):c.*440C>T rs886054651
NM_006087.4(TUBB4A):c.*633C>A rs74383079
NM_006087.4(TUBB4A):c.*69C>G rs564748070
NM_006087.4(TUBB4A):c.*792C>T rs1914007188
NM_006087.4(TUBB4A):c.1228G>A (p.Glu410Lys) rs587777428
NM_006087.4(TUBB4A):c.1289C>A (p.Ala430Asp)
NM_006087.4(TUBB4A):c.167-12G>C rs1914527740
NM_006087.4(TUBB4A):c.238C>T (p.Pro80Ser) rs1599414391
NM_006087.4(TUBB4A):c.4C>G (p.Arg2Gly) rs587776983
NM_006087.4(TUBB4A):c.533C>T (p.Thr178Met) rs587777468
NM_006087.4(TUBB4A):c.538G>A (p.Val180Met) rs1064797231
NM_006087.4(TUBB4A):c.630C>T (p.Ile210=) rs1268743523
NM_006087.4(TUBB4A):c.722G>C (p.Arg241Pro) rs756958534
NM_006087.4(TUBB4A):c.763G>A (p.Val255Ile) rs767399782
NM_006087.4(TUBB4A):c.811G>A (p.Ala271Thr) rs587777074
NM_006087.4(TUBB4A):c.854C>A (p.Thr285Lys) rs552079378
NM_006087.4(TUBB4A):c.982G>A (p.Glu328Lys)

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