ClinVar Miner

List of variants studied for inherited glutathione metabolism disease by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_017570.5(OPLAH):c.2303G>A (p.Arg768His) rs539275646 0.00004
NM_000637.5(GSR):c.640G>A (p.Gly214Ser) rs1040248294 0.00001
NM_000178.4(GSS):c.351+1_351+14dup
NM_000637.5(GSR):c.342del (p.Met113_Trp114insTer) rs2486583478
NM_001498.4(GCLC):c.514T>A (p.Ser172Thr) rs1554152412
NM_002085.5(GPX4):c.502-1del rs1555716575
XR_001745509.1:n.2038G>A

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