ClinVar Miner

List of variants in gene TUBGCP6 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_020461.4(TUBGCP6):c.3382A>C (p.Arg1128=) rs1266725037 0.00264
NM_020461.4(TUBGCP6):c.89G>A (p.Arg30Gln) rs148626062 0.00200
NM_020461.4(TUBGCP6):c.3490G>A (p.Val1164Met) rs9628306 0.00153
NM_020461.4(TUBGCP6):c.1452G>A (p.Pro484=) rs114942206 0.00107
NM_020461.4(TUBGCP6):c.1193C>T (p.Ser398Leu) rs142435821 0.00062
NM_020461.4(TUBGCP6):c.3193G>A (p.Glu1065Lys) rs143759693 0.00062
NM_020461.4(TUBGCP6):c.1026G>A (p.Pro342=) rs141805017 0.00055
NM_020461.4(TUBGCP6):c.1539C>T (p.Cys513=) rs149982006 0.00051
NM_020461.4(TUBGCP6):c.3898C>T (p.His1300Tyr) rs148601529 0.00048
NM_020461.4(TUBGCP6):c.161C>G (p.Thr54Ser) rs139974572 0.00041
NM_020461.4(TUBGCP6):c.5285C>T (p.Pro1762Leu) rs201721812 0.00020
NM_020461.4(TUBGCP6):c.655G>T (p.Val219Leu) rs137934849 0.00019
NM_020461.4(TUBGCP6):c.2489C>T (p.Thr830Met) rs758201280 0.00014
NM_020461.4(TUBGCP6):c.245T>G (p.Leu82Arg) rs200360214 0.00008
NM_020461.4(TUBGCP6):c.2065+9C>T rs781746721 0.00006
NM_020461.4(TUBGCP6):c.4051G>C (p.Ala1351Pro) rs200701438 0.00006
NM_020461.4(TUBGCP6):c.4520T>A (p.Phe1507Tyr) rs146136859 0.00006
NM_020461.4(TUBGCP6):c.4954+10C>T rs200824422 0.00005
NM_020461.4(TUBGCP6):c.1304G>A (p.Gly435Asp) rs368378157 0.00004
NM_020461.4(TUBGCP6):c.2066-6A>G rs368765755 0.00003
NM_020461.4(TUBGCP6):c.3451G>A (p.Val1151Met) rs750851968 0.00002
NM_020461.4(TUBGCP6):c.5161G>A (p.Val1721Ile) rs377506638 0.00002
NM_020461.4(TUBGCP6):c.1511A>G (p.Tyr504Cys) rs745507206 0.00001
NM_020461.4(TUBGCP6):c.1529T>G (p.Leu510Arg) rs777796155 0.00001
NM_020461.4(TUBGCP6):c.4587C>T (p.Gly1529=) rs554921650 0.00001
NM_020461.4(TUBGCP6):c.4876G>A (p.Gly1626Ser) rs201575861 0.00001
NM_020461.4(TUBGCP6):c.1700_1701inv (p.Leu567Ser)
NM_020461.4(TUBGCP6):c.2198G>C (p.Ser733Thr) rs1422096763
NM_020461.4(TUBGCP6):c.2893C>T (p.Pro965Ser) rs797046079
NM_020461.4(TUBGCP6):c.3288T>A (p.Asp1096Glu) rs6010209
NM_020461.4(TUBGCP6):c.3532A>T (p.Met1178Leu) rs1215314321

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