ClinVar Miner

List of variants studied for Hemolytic anemia due to hexokinase deficiency by UOS Fisiopatologia delle Anemie, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001358263.1(HK1):c.75+20308C>T rs756166032 0.00001
NM_000188.3(HK1):c.1354G>C (p.Gly452Arg) rs2132884703

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