ClinVar Miner

List of variants studied for congenital nonspherocytic hemolytic anemia by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (7):
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.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_000298.6(PKLR):c.1594C>T (p.Arg532Trp) rs201255024 0.00001

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