ClinVar Miner

List of variants reported as uncertain significance for inherited glutathione metabolism disease by Baylor Genetics

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_017570.5(OPLAH):c.1372G>A (p.Val458Met) rs144920839 0.00048
NM_002085.5(GPX4):c.85-321G>A rs371892333 0.00009
NM_017570.5(OPLAH):c.1850T>C (p.Met617Thr) rs370801470 0.00008
NM_001288833.2(GGT1):c.127G>A (p.Val43Met) rs751587531 0.00002

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