ClinVar Miner

Submissions for variant NM_000188.3(HK1):c.2039C>G (p.Thr680Ser)

gnomAD frequency: 0.00001  dbSNP: rs398122379
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000049268 SCV000077525 pathogenic Hemolytic anemia due to hexokinase deficiency 2003-01-01 no assertion criteria provided literature only

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