ClinVar Miner

List of variants in gene TWNK studied for Infantile onset spinocerebellar ataxia

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Total variants: 94
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HGVS dbSNP gnomAD frequency
NM_021830.5(TWNK):c.-605G>T rs3740484 0.35424
NM_021830.5(TWNK):c.*766A>T rs3740488 0.29073
NM_021830.5(TWNK):c.1593-5C>T rs3740485 0.28642
NM_021830.5(TWNK):c.1593-3T>C rs3740486 0.28631
NM_021830.5(TWNK):c.*521C>G rs11542131 0.08015
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_021830.5(TWNK):c.*204G>A rs61871507 0.01296
NM_021830.5(TWNK):c.-241C>T rs113159821 0.00734
NM_021830.5(TWNK):c.*455C>T rs148810959 0.00460
NM_021830.5(TWNK):c.-650A>G rs187213541 0.00454
NM_021830.5(TWNK):c.*301C>T rs41291468 0.00264
NM_021830.5(TWNK):c.*419A>T rs187553791 0.00223
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_021830.5(TWNK):c.1735-14C>A rs201795189 0.00127
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810 0.00119
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280 0.00045
NM_021830.5(TWNK):c.*709C>G rs41291470 0.00044
NM_021830.5(TWNK):c.*453G>A rs769950933 0.00040
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) rs145068570 0.00032
NM_021830.5(TWNK):c.1523A>G (p.Tyr508Cys) rs80356540 0.00028
NM_021830.5(TWNK):c.1527C>T (p.Asp509=) rs62626272 0.00028
NM_021830.5(TWNK):c.-592C>T rs774214514 0.00024
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883 0.00024
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271 0.00021
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) rs144001072 0.00021
NM_021830.5(TWNK):c.1101C>T (p.Ile367=) rs200798080 0.00018
NM_021830.5(TWNK):c.-418C>T rs750659283 0.00016
NM_021830.5(TWNK):c.*341G>A rs1007423847 0.00014
NM_021830.5(TWNK):c.-290G>C rs62626270 0.00013
NM_021830.5(TWNK):c.-470G>A rs886046626 0.00010
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln) rs369223258 0.00009
NM_021830.5(TWNK):c.-644A>T rs886046623 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_021830.5(TWNK):c.*234T>G rs886046633 0.00004
NM_021830.5(TWNK):c.*438G>C rs886046634 0.00004
NM_021830.5(TWNK):c.*561C>T rs901722933 0.00004
NM_021830.5(TWNK):c.*574C>T rs886046636 0.00004
NM_021830.5(TWNK):c.-549G>A rs886046625 0.00004
NM_021830.5(TWNK):c.1597G>A (p.Ala533Thr) rs139124415 0.00004
NM_021830.5(TWNK):c.672T>C (p.Ala224=) rs368863664 0.00004
NM_021830.5(TWNK):c.1953G>A (p.Lys651=) rs771310512 0.00003
NM_021830.5(TWNK):c.1958C>T (p.Ser653Phe) rs775046032 0.00003
NM_021830.5(TWNK):c.492C>T (p.Leu164=) rs775463083 0.00003
NM_021830.5(TWNK):c.56G>A (p.Gly19Glu) rs767175342 0.00003
NM_021830.5(TWNK):c.*367A>G rs62626296 0.00002
NM_021830.5(TWNK):c.*552G>C rs111434414 0.00002
NM_021830.5(TWNK):c.*769G>A rs919556945 0.00002
NM_021830.5(TWNK):c.1060C>T (p.Arg354Cys) rs533720034 0.00002
NM_021830.5(TWNK):c.922T>C (p.Leu308=) rs754389465 0.00002
NM_021830.5(TWNK):c.*619G>A rs886046637 0.00001
NM_021830.5(TWNK):c.*763T>C rs886046639 0.00001
NM_021830.5(TWNK):c.-304G>A rs200599543 0.00001
NM_021830.5(TWNK):c.1172G>A (p.Arg391His) rs556445621 0.00001
NM_021830.5(TWNK):c.1196A>G (p.Asn399Ser) rs863223921 0.00001
NM_021830.5(TWNK):c.1244-14C>T rs758757135 0.00001
NM_021830.5(TWNK):c.1296G>T (p.Leu432Phe) rs1382315425 0.00001
NM_021830.5(TWNK):c.1370C>T (p.Thr457Ile) rs80356544 0.00001
NM_021830.5(TWNK):c.1387C>T (p.Arg463Trp) rs386834146 0.00001
NM_021830.5(TWNK):c.1488T>C (p.Thr496=) rs549767223 0.00001
NM_021830.5(TWNK):c.1572C>T (p.His524=) rs774091248 0.00001
NM_021830.5(TWNK):c.1853C>T (p.Pro618Leu) rs886046632 0.00001
NM_021830.5(TWNK):c.904C>T (p.Arg302Trp) rs374997012 0.00001
NM_021830.5(TWNK):c.913G>A (p.Val305Ile) rs753457416 0.00001
NM_021830.5(TWNK):c.952G>A (p.Ala318Thr) rs80356542 0.00001
NM_021830.5(TWNK):c.967C>T (p.Arg323Ter) rs863223919 0.00001
NM_021830.5(TWNK):c.*248G>A rs1851850715
NM_021830.5(TWNK):c.*346A>C rs1851852761
NM_021830.5(TWNK):c.*555G>A rs886046635
NM_021830.5(TWNK):c.*747C>G rs886046638
NM_021830.5(TWNK):c.-423C>T rs886046627
NM_021830.5(TWNK):c.-584G>C rs1564806518
NM_021830.5(TWNK):c.-585T>G rs886046624
NM_021830.5(TWNK):c.-622C>T rs993449080
NM_021830.5(TWNK):c.1001G>A (p.Arg334Gln) rs28937887
NM_021830.5(TWNK):c.1199G>T (p.Arg400Leu) rs781016340
NM_021830.5(TWNK):c.1287C>T (p.Ala429=) rs80356541
NM_021830.5(TWNK):c.1314C>G (p.Asn438Lys) rs1366090807
NM_021830.5(TWNK):c.1366C>G (p.Leu456Val) rs386834145
NM_021830.5(TWNK):c.1441C>G (p.Leu481Val) rs1590020571
NM_021830.5(TWNK):c.1628G>A (p.Arg543Gln) rs753386843
NM_021830.5(TWNK):c.1729_1732del (p.Ala577fs) rs2493642676
NM_021830.5(TWNK):c.1826G>T (p.Arg609Leu) rs1274226715
NM_021830.5(TWNK):c.1906G>A (p.Ala636Thr) rs1426435572
NM_021830.5(TWNK):c.2005G>A (p.Gly669Ser) rs1851842282
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) rs182559752
NM_021830.5(TWNK):c.247C>T (p.Pro83Ser) rs386834147
NM_021830.5(TWNK):c.276C>T (p.Gly92=) rs886046631
NM_021830.5(TWNK):c.333del (p.Leu112fs) rs886037832
NM_021830.5(TWNK):c.49del (p.Leu17fs) rs779142717
NM_021830.5(TWNK):c.595C>T (p.Arg199Ter)
NM_021830.5(TWNK):c.596G>A (p.Arg199Gln) rs1564807938
NM_021830.5(TWNK):c.77G>T (p.Gly26Val) rs772221026
NM_021830.5(TWNK):c.853C>T (p.Arg285Ter) rs1564808324
NM_021830.5(TWNK):c.874C>A (p.Pro292Thr) rs759603316

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