ClinVar Miner

List of variants studied for Hemolytic anemia due to hexokinase deficiency by OMIM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000188.3(HK1):c.2039C>G (p.Thr680Ser) rs398122379 0.00001
NM_000188.3(HK1):c.1586T>C (p.Leu529Ser) rs137853249
NM_000188.3(HK1):c.497_591+1del

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