ClinVar Miner

List of variants studied for anemia, nonspherocytic hemolytic, due to G6PD deficiency by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NC_000023.11:g.154534338dup rs2148330517
NM_001360016.2(G6PD):c.1441C>G (p.Pro481Ala) rs202122673
NM_001360016.2(G6PD):c.152C>T (p.Thr51Ile) rs2148332084
NM_001360016.2(G6PD):c.235G>C (p.Asp79His) rs2148331875
NM_001360016.2(G6PD):c.353A>C (p.Tyr118Ser) rs2148331380

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