ClinVar Miner

List of variants in gene TH reported as uncertain significance by GeneDx

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.406G>A (p.Val136Met) rs142046543 0.00029
NM_000360.4(TH):c.391T>G (p.Phe131Val) rs200536568 0.00017
NM_000360.4(TH):c.91-896G>A rs376736869 0.00012
NM_000360.4(TH):c.452T>C (p.Val151Ala) rs147569564 0.00010
NM_000360.4(TH):c.263C>T (p.Pro88Leu) rs150260759 0.00006
NM_000360.4(TH):c.362C>T (p.Pro121Leu) rs760017478 0.00006
NM_000360.4(TH):c.550G>A (p.Asp184Asn) rs139807727 0.00006
NM_000360.4(TH):c.398G>A (p.Arg133His) rs376881948 0.00005
NM_000360.4(TH):c.1061C>T (p.Ala354Val) rs763039181 0.00002
NM_000360.4(TH):c.1229G>A (p.Arg410Gln) rs367874223 0.00002
NM_000360.4(TH):c.787G>C (p.Gly263Arg) rs755536257 0.00002
NM_000360.4(TH):c.1154T>C (p.Val385Ala) rs573129039 0.00001
NM_000360.4(TH):c.1361C>A (p.Pro454His) rs776457245 0.00001
NM_000360.4(TH):c.155C>T (p.Ala52Val) rs1338337952 0.00001
NM_000360.4(TH):c.446G>T (p.Arg149Leu) rs1357867110 0.00001
NM_000360.4(TH):c.458A>G (p.Glu153Gly) rs766666741 0.00001
NM_000360.4(TH):c.923T>G (p.Phe308Cys) rs1333454331 0.00001
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.1318G>T (p.Ala440Ser) rs374465917
NM_000360.4(TH):c.220GAG[1] (p.Glu75del) rs2133699767
NM_000360.4(TH):c.344C>T (p.Thr115Ile) rs756013579
NM_000360.4(TH):c.44G>A (p.Arg15His) rs199648386
NM_000360.4(TH):c.488-17C>G rs918432885
NM_000360.4(TH):c.706T>G (p.Tyr236Asp) rs2133693875
NM_000360.4(TH):c.799G>C (p.Asp267His) rs1057524283
NM_000360.4(TH):c.818A>G (p.Glu273Gly)
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336

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