ClinVar Miner

List of variants in gene TH reported as likely pathogenic by Baylor Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 38
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_000360.4(TH):c.91-818G>A rs753403788 0.00004
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747 0.00003
NM_000360.4(TH):c.90+13G>A rs77140743 0.00003
NM_000360.4(TH):c.1061C>T (p.Ala354Val) rs763039181 0.00002
NM_000360.4(TH):c.1388C>T (p.Thr463Met) rs45471299 0.00002
NM_000360.4(TH):c.644+1G>A rs1266265578 0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg) rs755536257 0.00002
NM_199292.3(TH):c.-71C>T rs549435434 0.00002
NM_000360.4(TH):c.1141C>A (p.Gln381Lys) rs121917762 0.00001
NM_000360.4(TH):c.1035_1045del (p.Gln346fs) rs1590166832
NM_000360.4(TH):c.1036C>T (p.Gln346Ter)
NM_000360.4(TH):c.1066dup (p.Leu356fs)
NM_000360.4(TH):c.1105-1G>A
NM_000360.4(TH):c.1125del (p.Glu375fs) rs2133690407
NM_000360.4(TH):c.1141C>T (p.Gln381Ter)
NM_000360.4(TH):c.1147G>A (p.Gly383Arg)
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.1267C>T (p.Gln423Ter)
NM_000360.4(TH):c.1273C>T (p.Gln425Ter)
NM_000360.4(TH):c.192del (p.Asp66fs)
NM_000360.4(TH):c.531_541del (p.His178fs)
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.695+1G>C
NM_000360.4(TH):c.696-1G>A
NM_000360.4(TH):c.696-2A>G rs1554923121
NM_000360.4(TH):c.708del (p.Val235_Tyr236insTer)
NM_000360.4(TH):c.789_795dup (p.Glu266fs)
NM_000360.4(TH):c.820_823del (p.Asp274fs)
NM_000360.4(TH):c.841+1G>A
NM_000360.4(TH):c.90+13G>T rs77140743
NM_000360.4(TH):c.91-860G>T
NM_000360.4(TH):c.917G>A (p.Arg306His) rs28934580
NM_000360.4(TH):c.934C>T (p.Gln312Ter)
NM_000360.4(TH):c.977+1G>A rs1057516736
NM_000360.4(TH):c.978-1_1019del
NM_000360.4(TH):c.978-2A>G
NM_199292.2(TH):c.-70G>A rs1372180906

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.