ClinVar Miner

List of variants in gene CYB5R3 reported as pathogenic for Deficiency of cytochrome-b5 reductase

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000398.7(CYB5R3):c.757G>A (p.Val253Met) rs144071404 0.00006
NM_000398.7(CYB5R3):c.464-2A>C rs794728013 0.00004
NM_000398.7(CYB5R3):c.478C>T (p.Arg160Ter) rs61732609 0.00004
NM_000398.7(CYB5R3):c.574C>T (p.Arg192Cys) rs543277216 0.00001
NM_000398.7(CYB5R3):c.708G>A (p.Trp236Ter) rs763259379 0.00001
NM_000398.7(CYB5R3):c.226+2T>C rs1601938489
NM_000398.7(CYB5R3):c.830dup (p.Pro278fs) rs750819571

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