ClinVar Miner

List of variants in gene TDP1 studied for cerebellar ataxia

Included ClinVar conditions (255):
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Gene type:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_018319.4(TDP1):c.-230-14C>A rs28365055 0.25524
NM_018319.4(TDP1):c.*77C>T rs9488 0.20063
NM_018319.4(TDP1):c.-21C>T rs34348197 0.06559
NM_018319.4(TDP1):c.*1448G>A rs34004710 0.05962
NM_018319.4(TDP1):c.*1452C>T rs34923595 0.05957
NM_018319.4(TDP1):c.*1460C>G rs35944390 0.05950
NM_018319.4(TDP1):c.1077A>G (p.Pro359=) rs17126522 0.05945
NM_018319.4(TDP1):c.-224A>G rs35439694 0.05316
NM_018319.4(TDP1):c.-177C>T rs35132667 0.04596
NM_018319.4(TDP1):c.1107T>C (p.Asn369=) rs10151377 0.03424
NM_018319.4(TDP1):c.*393T>C rs7150480 0.03142
NM_018319.4(TDP1):c.*539G>A rs35090050 0.02032
NM_018319.4(TDP1):c.-230-4G>T rs28365053 0.01666
NM_018319.4(TDP1):c.*799A>G rs35437984 0.01042
NM_018319.4(TDP1):c.911G>A (p.Arg304Gln) rs34452707 0.00640
NM_018319.4(TDP1):c.1098A>G (p.Gln366=) rs34563565 0.00639
NM_018319.4(TDP1):c.*1105A>G rs34815305 0.00542
NM_018319.4(TDP1):c.*598G>A rs34083314 0.00430
NM_018319.4(TDP1):c.1317+11G>A rs36009827 0.00423
NM_018319.4(TDP1):c.1705A>G (p.Thr569Ala) rs35973343 0.00413
NM_018319.3(TDP1):c.-292G>T rs577403021 0.00332
NM_018319.4(TDP1):c.*496G>A rs34796911 0.00305
NM_018319.4(TDP1):c.*599G>C rs184066284 0.00238
NM_018319.4(TDP1):c.1165G>A (p.Ala389Thr) rs138044459 0.00178
NM_018319.4(TDP1):c.*1618T>C rs35308003 0.00169
NM_018319.4(TDP1):c.*1430G>C rs34513682 0.00053
NM_018319.4(TDP1):c.*945C>T rs540904390 0.00051
NM_018319.4(TDP1):c.1747A>G (p.Ser583Gly) rs201355368 0.00039
NM_018319.4(TDP1):c.1366+10G>A rs200295380 0.00036
NM_018319.4(TDP1):c.*950C>T rs577840358 0.00035
NM_018319.4(TDP1):c.1343G>A (p.Arg448Gln) rs144746398 0.00033
NM_018319.4(TDP1):c.*1355G>A rs755484553 0.00022
NM_018319.4(TDP1):c.884+5G>A rs370991229 0.00022
NM_018319.4(TDP1):c.*1203G>T rs531417402 0.00018
NM_018319.4(TDP1):c.*228T>G rs954549405 0.00018
NM_018319.4(TDP1):c.885-15T>C rs375601290 0.00016
NM_018319.4(TDP1):c.*1015G>A rs374734859 0.00011
NM_018319.4(TDP1):c.1342C>T (p.Arg448Trp) rs141725364 0.00011
NM_018319.4(TDP1):c.*801G>A rs1017363264 0.00010
NM_018319.4(TDP1):c.*776T>C rs761481355 0.00009
NM_018319.4(TDP1):c.-8+15T>C rs767166629 0.00008
NM_018319.4(TDP1):c.*904C>T rs886050884 0.00006
NM_018319.4(TDP1):c.789C>T (p.His263=) rs562317662 0.00006
NM_018319.4(TDP1):c.*1200G>A rs758892109 0.00004
NM_018319.4(TDP1):c.*37T>C rs374710359 0.00004
NM_018319.4(TDP1):c.757G>A (p.Ala253Thr) rs202165305 0.00004
NM_018319.4(TDP1):c.*264G>T rs779122283 0.00003
NM_018319.4(TDP1):c.*631C>T rs1027214918 0.00003
NM_018319.4(TDP1):c.1799C>T (p.Thr600Met) rs772139596 0.00003
NM_018319.4(TDP1):c.716A>G (p.His239Arg) rs750038981 0.00003
NM_018319.4(TDP1):c.910C>T (p.Arg304Ter) rs370121773 0.00003
NM_018319.4(TDP1):c.998C>T (p.Pro333Leu) rs142600338 0.00003
NM_018319.4(TDP1):c.-232A>C rs886050882 0.00002
NM_018319.4(TDP1):c.1478A>G (p.His493Arg) rs119467003 0.00002
NM_018319.4(TDP1):c.1527G>C (p.Trp509Cys) rs369742694 0.00002
NM_018319.4(TDP1):c.1793C>T (p.Pro598Leu) rs113382706 0.00002
NM_018319.3(TDP1):c.-278C>T rs886050880 0.00001
NM_018319.4(TDP1):c.*1239T>C rs1387359215 0.00001
NM_018319.4(TDP1):c.*1367A>G rs1462755052 0.00001
NM_018319.4(TDP1):c.*774G>A rs372910082 0.00001
NM_018319.4(TDP1):c.-38G>A rs1037056557 0.00001
NM_018319.4(TDP1):c.643T>C (p.Tyr215His) rs754702237 0.00001
NM_018319.4(TDP1):c.896del (p.Ser299fs) rs773960264 0.00001
NM_018319.3(TDP1):c.-275C>G rs886050881
NM_018319.3(TDP1):c.-276_-274dupCCG rs35210768
NM_018319.4(TDP1):c.*1099G>A rs1888617977
NM_018319.4(TDP1):c.*134A>C rs780471860
NM_018319.4(TDP1):c.*135T>C rs1566938109
NM_018319.4(TDP1):c.*1399T>A rs1888638490
NM_018319.4(TDP1):c.*1511C>G rs1596750474
NM_018319.4(TDP1):c.*608del rs397897279
NM_018319.4(TDP1):c.*89_*90dup rs397721425
NM_018319.4(TDP1):c.*932C>T rs537989252
NM_018319.4(TDP1):c.-242T>G rs533696578
NM_018319.4(TDP1):c.-243C>T rs886873955
NM_018319.4(TDP1):c.-264G>A rs1891509764
NM_018319.4(TDP1):c.-55C>G rs751280891
NM_018319.4(TDP1):c.-76T>C rs886050883
NM_018319.4(TDP1):c.1201G>T (p.Val401Phe) rs892739281
NM_018319.4(TDP1):c.1317G>T (p.Leu439Phe) rs138711165
NM_018319.4(TDP1):c.1611C>G (p.Tyr537Ter) rs772318046
NM_018319.4(TDP1):c.764T>G (p.Leu255Trp) rs151271332

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