ClinVar Miner

List of variants in gene TSEN34 reported as uncertain significance for central nervous system malformation

Included ClinVar conditions (163):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001077446.4(TSEN34):c.*993C>T rs535031564 0.00192
NM_001077446.4(TSEN34):c.*496T>A rs190495812 0.00130
NM_001077446.4(TSEN34):c.*1046T>C rs553497009 0.00062
NM_001077446.4(TSEN34):c.392C>T (p.Ser131Leu) rs202245444 0.00050
NM_001077446.4(TSEN34):c.230G>C (p.Arg77Pro) rs200004897 0.00034
NM_001077446.4(TSEN34):c.*692A>G rs886054627 0.00021
NM_001077446.4(TSEN34):c.468G>C (p.Ser156=) rs376153530 0.00019
NM_001077446.4(TSEN34):c.*948C>T rs886054629 0.00017
NM_001077446.4(TSEN34):c.*458C>T rs905318412 0.00006
NM_001077446.4(TSEN34):c.5T>C (p.Leu2Pro) rs778510316 0.00005
NM_001077446.4(TSEN34):c.*358T>C rs762136353 0.00003
NM_001077446.4(TSEN34):c.675A>G (p.Arg225=) rs375366303 0.00003
NM_001077446.4(TSEN34):c.*999A>G rs1437168457 0.00002
NM_001077446.4(TSEN34):c.262C>T (p.Arg88Cys) rs758855323 0.00002
NM_001077446.4(TSEN34):c.274G>C (p.Glu92Gln) rs200274242 0.00002
NM_001077446.4(TSEN34):c.591C>G (p.Ala197=) rs781446570 0.00002
NM_001077446.4(TSEN34):c.*758T>G rs989200379 0.00001
NM_001077446.4(TSEN34):c.*836C>T rs1476835074 0.00001
NM_001077446.4(TSEN34):c.*94C>T rs886054626 0.00001
NM_001077446.4(TSEN34):c.153G>A (p.Leu51=) rs1276930053 0.00001
NM_001077446.4(TSEN34):c.397G>C (p.Ala133Pro) rs767815202 0.00001
NM_001077446.4(TSEN34):c.765C>T (p.His255=) rs148706818 0.00001
NM_001077446.4(TSEN34):c.786C>T (p.Cys262=) rs749845322 0.00001
NM_001077446.4(TSEN34):c.*1078del rs886054630
NM_001077446.4(TSEN34):c.*199A>T rs527437622
NM_001077446.4(TSEN34):c.*276G>C rs1281858067
NM_001077446.4(TSEN34):c.*384G>C rs1052800195
NM_001077446.4(TSEN34):c.*842T>G rs569859820
NM_001077446.4(TSEN34):c.*849AT[3] rs746578183
NM_001077446.4(TSEN34):c.*863G>A rs920714892
NM_001077446.4(TSEN34):c.183C>A (p.Ala61=) rs886054624
NM_001077446.4(TSEN34):c.289C>T (p.Gln97Ter) rs1568849876
NM_001077446.4(TSEN34):c.294C>T (p.Ser98=) rs770587931
NM_001077446.4(TSEN34):c.687G>A (p.Glu229=) rs886054625
NM_001077446.4(TSEN34):c.73C>T (p.Arg25Cys) rs1307925755
NM_001077446.4(TSEN34):c.95C>A (p.Thr32Lys) rs770199288
NM_001077446.4(TSEN34):c.96G>T (p.Thr32=) rs931778585
NM_024075.4(TSEN34):c.-175C>A rs886054622
NM_024075.5(TSEN34):c.-41G>A rs886054623

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