ClinVar Miner

List of variants in gene TH studied for TH-related disorder

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000360.4(TH):c.487+3G>A rs11042950 0.00795
NM_000360.4(TH):c.579C>T (p.Gly193=) rs147852210 0.00494
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00402
NM_000360.4(TH):c.1398C>T (p.Ile466=) rs118175546 0.00055
NM_000360.4(TH):c.1255G>A (p.Val419Met) rs184106392 0.00034
NM_000360.4(TH):c.627C>G (p.Ile209Met) rs202149985 0.00031
NM_000360.4(TH):c.594G>T (p.Val198=) rs544661832 0.00027
NM_000360.4(TH):c.372G>A (p.Gly124=) rs773806238 0.00014
NM_000360.4(TH):c.108G>A (p.Gly36=) rs372002058 0.00013
NM_000360.4(TH):c.842-38C>G rs776510373 0.00012
NM_000360.4(TH):c.1389G>A (p.Thr463=) rs370029424 0.00010
NM_000360.4(TH):c.252G>A (p.Leu84=) rs758016812 0.00007
NM_000360.4(TH):c.685A>T (p.Ile229Phe) rs778613708 0.00007
NM_000360.4(TH):c.285G>A (p.Ala95=) rs749856378 0.00001
NM_000360.4(TH):c.393C>T (p.Phe131=) rs1239693053 0.00001
NM_000360.4(TH):c.1390C>T (p.Leu464=) rs777421313
NM_000360.4(TH):c.517C>T (p.Leu173=) rs1468608879
NM_000360.4(TH):c.576+8G>T rs372753775
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336

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