ClinVar Miner

List of variants in gene TH reported as uncertain significance for not specified

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Total variants: 10
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HGVS dbSNP gnomAD frequency
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.56C>G (p.Ser19Cys)
NM_000360.4(TH):c.990C>G (p.His330Gln)

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