ClinVar Miner

List of variants in gene CYB5R3 reported as uncertain significance by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000398.7(CYB5R3):c.890G>A (p.Arg297His) rs76458556 0.00145
NM_000398.7(CYB5R3):c.637G>A (p.Glu213Lys) rs61745147 0.00083
NM_000398.7(CYB5R3):c.137G>A (p.Arg46Gln) rs781605975 0.00005
NM_000398.7(CYB5R3):c.21+4910G>C rs1356643970 0.00001
NM_000398.7(CYB5R3):c.884C>T (p.Thr295Met) rs768095972 0.00001
NM_000398.7(CYB5R3):c.145G>C (p.Asp49His) rs144467449
NM_000398.7(CYB5R3):c.176G>A (p.Arg59His)
NM_000398.7(CYB5R3):c.334-15G>A
NM_000398.7(CYB5R3):c.349A>G (p.Thr117Ala) rs762291523
NM_000398.7(CYB5R3):c.548-13G>A rs573516374
NM_000398.7(CYB5R3):c.861C>G (p.Asn287Lys)
NM_000398.7(CYB5R3):c.871_879del (p.Val291_His293del) rs2146859537

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