ClinVar Miner

List of variants in gene TBL1X studied for thyroid gland disorder

Included ClinVar conditions (106):
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Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_005647.4(TBL1X):c.892-24G>T rs3747430 0.46891
NM_005647.4(TBL1X):c.1054-41C>A rs2239411 0.34639
NM_005647.4(TBL1X):c.1015C>T (p.Arg339Ter) rs1601844140
NM_005647.4(TBL1X):c.1246A>T (p.Asn416Tyr) rs1601855785
NM_005647.4(TBL1X):c.1249G>A (p.Ala417Thr) rs2083229730
NM_005647.4(TBL1X):c.1258T>C (p.Trp420Arg) rs2083229757
NM_005647.4(TBL1X):c.1369A>T (p.Ile457Phe)
NM_005647.4(TBL1X):c.1510C>T (p.His504Tyr) rs1601857538
NM_005647.4(TBL1X):c.1526A>G (p.Tyr509Cys) rs1601857555
NM_005647.4(TBL1X):c.1648T>C (p.Phe550Leu)
NM_005647.4(TBL1X):c.749+15G>A rs2301675
NM_005647.4(TBL1X):c.749+22dup rs3214138

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