ClinVar Miner

List of variants in gene TH reported by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260 0.01611
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
NM_000360.4(TH):c.1358G>A (p.Arg453His) rs759599321 0.00009
NM_000360.4(TH):c.1382C>T (p.Pro461Leu) rs767635052 0.00004
NM_000360.4(TH):c.1402G>A (p.Val468Met) rs1800033 0.00004
NM_000360.4(TH):c.1061C>T (p.Ala354Val) rs763039181 0.00002
NM_000360.4(TH):c.1189G>A (p.Gly397Arg) rs1264884607 0.00002
NM_199292.3(TH):c.-71C>T rs549435434 0.00002
NM_000360.4(TH):c.646G>A (p.Gly216Ser) rs762304556 0.00001
NM_000360.4(TH):c.850G>A (p.Gly284Ser) rs1288483479 0.00001
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
NM_000360.4(TH):c.1147G>T (p.Gly383Trp)
NM_000360.4(TH):c.1200+2T>C rs2133690169
NM_000360.4(TH):c.1228C>T (p.Arg410Trp) rs575326605
NM_000360.4(TH):c.1229G>T (p.Arg410Leu) rs367874223
NM_000360.4(TH):c.1282C>T (p.Gln428Ter) rs786204540
NM_000360.4(TH):c.145C>T (p.Arg49Trp) rs1312843586
NM_000360.4(TH):c.203del (p.Leu68fs) rs1554923852
NM_000360.4(TH):c.56C>G (p.Ser19Cys)
NM_000360.4(TH):c.628G>A (p.Ala210Thr) rs1260455415
NM_000360.4(TH):c.90+7dup rs780485650
NM_000360.4(TH):c.983G>T (p.Cys328Phe) rs121917765
NM_000360.4(TH):c.990C>G (p.His330Gln)

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