ClinVar Miner

List of variants in gene TDP1 reported as uncertain significance for autosomal recessive disease

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
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.*945C>T rs540904390 0.00051
NM_018319.4(TDP1):c.1747A>G (p.Ser583Gly) rs201355368 0.00039
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.998C>T (p.Pro333Leu) rs142600338 0.00003
NM_018319.4(TDP1):c.-232A>C rs886050882 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_018319.4(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.-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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