ClinVar Miner

List of variants studied for tyrosinemia type III by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002150.3(HPD):c.1005C>G (p.Ile335Met) rs137852868 0.00051
NM_002150.3(HPD):c.479A>G (p.Tyr160Cys) rs137852865 0.00001
NM_002150.3(HPD):c.600C>G (p.Tyr200Ter) rs137852867
NM_002150.3(HPD):c.774T>G (p.Tyr258Ter) rs137852866

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