ClinVar Miner

List of variants in gene HK1 studied for carbohydrate metabolism disease

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HK1, 96-BP DEL
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_000188.3(HK1):c.1586T>C (p.Leu529Ser) rs137853249
NM_000188.3(HK1):c.2039C>G (p.Thr680Ser) rs398122379
NM_000188.3(HK1):c.2165G>A (p.Arg722Lys)
NM_000188.3(HK1):c.2519C>T (p.Ala840Val)

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