ClinVar Miner

List of variants studied for dystonia 5 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg) rs41298442 0.00039
NM_000161.3(GCH1):c.610G>A (p.Val204Ile) rs200891969 0.00009
NM_000161.3(GCH1):c.677T>A (p.Val226Glu) rs776426317
NM_000161.3(GCH1):c.704G>A (p.Arg235Gln) rs1555358380

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