ClinVar Miner

List of variants in gene TH studied for not specified

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.577-22C>T rs4074905 0.62210
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_000360.4(TH):c.977+8C>G rs12419447 0.27597
NM_000360.4(TH):c.720G>A (p.Lys240=) rs6357 0.23916
NM_000360.4(TH):c.210T>C (p.Ala70=) rs7950050 0.03941
NM_000360.4(TH):c.186G>A (p.Ser62=) rs34510659 0.02696
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260 0.01611
NM_000360.4(TH):c.487+3G>A rs11042950 0.00795
NM_000360.4(TH):c.684G>A (p.Glu228=) rs11564716 0.00706
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
NM_000360.4(TH):c.267G>A (p.Arg89=) rs76240471 0.00359
NM_000360.4(TH):c.1358G>A (p.Arg453His) rs759599321 0.00009
NM_000360.4(TH):c.653C>T (p.Pro218Leu) rs377729019 0.00004
NM_000360.4(TH):c.1061C>T (p.Ala354Val) rs763039181 0.00002
NM_000360.4(TH):c.901G>A (p.Ala301Thr) rs779139610 0.00001
NM_000360.4(TH):c.1147G>T (p.Gly383Trp)
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.145C>T (p.Arg49Trp) rs1312843586
NM_000360.4(TH):c.313-38_313-35del rs200462975
NM_000360.4(TH):c.342G>A (p.Glu114=) rs886038763
NM_000360.4(TH):c.56C>G (p.Ser19Cys)
NM_000360.4(TH):c.990C>G (p.His330Gln)

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