ClinVar Miner

List of variants reported as benign for Dystonia 5; GTP cyclohydrolase I deficiency by Invitae

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000161.3(GCH1):c.*243C>T rs841 0.22091
NM_000161.3(GCH1):c.509+15G>A rs116688703 0.00856
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432 0.00389
NM_000161.3(GCH1):c.211C>T (p.Leu71=) rs141883031 0.00227
NM_000161.3(GCH1):c.507G>A (p.Ala169=) rs150158277 0.00029
NM_000161.3(GCH1):c.69C>T (p.Pro23=) rs767294964 0.00023
NM_000161.3(GCH1):c.542-19C>T rs201405174 0.00003
NC_000014.9:g.54902903_54902920del rs1408430070
NM_000161.3(GCH1):c.344-16715G>A rs11158026

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