ClinVar Miner

List of variants studied for familial hemolytic anemia by UNC Molecular Genetics Laboratory, University of North Carolina at Chapel Hill

Included ClinVar conditions (80):
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.934G>C (p.Asp312His) rs137852318 0.00072
NM_000289.6(PFKM):c.283C>T (p.Arg95Ter) rs121918195

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