ClinVar Miner

List of variants studied for methemoglobinemia due to deficiency of methemoglobin reductase by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000398.7(CYB5R3):c.575G>A (p.Arg192His) rs200581263 0.00010
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404 0.00006
NM_000398.7(CYB5R3):c.89C>T (p.Ser30Phe) rs147960720 0.00005
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys) rs543277216 0.00001
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) rs121965018 0.00001

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