ClinVar Miner

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

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Total variants: 3
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HGVS dbSNP
NM_000161.3(GCH1):c.211C>T (p.Leu71=) rs141883031
NM_000161.3(GCH1):c.507G>A (p.Ala169=) rs150158277
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu) rs41298432

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