ClinVar Miner

List of variants in gene TH reported by Baylor Genetics

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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
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.216C>T (p.Ala72=) rs773288225 0.00002
NM_000360.4(TH):c.292C>T (p.Arg98Ter) rs1057519220 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.614T>C (p.Leu205Pro) rs121917763 0.00001
NM_000360.4(TH):c.646G>A (p.Gly216Ser) rs762304556 0.00001
NM_000360.4(TH):c.1010C>T (p.Pro337Leu) rs2133692289
NM_000360.4(TH):c.1035_1045del (p.Gln346fs) rs1590166832
NM_000360.4(TH):c.1036C>T (p.Gln346Ter)
NM_000360.4(TH):c.1052T>C (p.Ile351Thr) rs1554922725
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.200C>T (p.Pro67Leu) rs752445432
NM_000360.4(TH):c.203del (p.Leu68fs) rs1554923852
NM_000360.4(TH):c.284C>T (p.Ala95Val) rs769126179
NM_000360.4(TH):c.531_541del (p.His178fs)
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.641G>T (p.Arg214Met)
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.730G>C (p.Ala244Pro) rs759968927
NM_000360.4(TH):c.789_795dup (p.Glu266fs)
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336
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

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