ClinVar Miner

List of variants studied for METHEMOGLOBINEMIA, TYPE I by OMIM

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_000398.7(CYB5R3):c.316G>A (p.Val106Met) rs121965009 0.00006
NM_000398.7(CYB5R3):c.173G>A (p.Arg58Gln) rs121965007 0.00002
NM_000398.7(CYB5R3):c.218T>C (p.Leu73Pro) rs121965013 0.00002
NM_000398.7(CYB5R3):c.611G>A (p.Cys204Tyr) rs121965015 0.00002
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp) rs121965016 0.00002
NM_000398.7(CYB5R3):c.719A>G (p.Asp240Gly) rs121965018 0.00001
NM_000398.7(CYB5R3):c.446T>C (p.Leu149Pro) rs121965008
NM_000398.7(CYB5R3):c.763GAG[1] (p.Glu256del) rs121965017

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