ClinVar Miner

List of variants in gene TH reported by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

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Total variants: 7
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HGVS dbSNP gnomAD frequency
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.1255G>A (p.Val419Met) rs184106392 0.00034
NM_000360.4(TH):c.406G>A (p.Val136Met) rs142046543 0.00029
NM_000360.4(TH):c.1368C>T (p.Ser456=) rs45538536 0.00023
NM_000360.4(TH):c.391T>G (p.Phe131Val) rs200536568 0.00017

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