ClinVar Miner

List of variants studied for anemia, nonspherocytic hemolytic by New York Genome Center

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
G6PD A-
NM_001360016.2(G6PD):c.72T>A (p.Asp24Glu) rs1557233192

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