ClinVar Miner

List of variants in gene HK1 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000188.3(HK1):c.1370C>T (p.Thr457Met) rs1057517928
NM_033500.2(HK1):c.-138G>A rs766565453
NM_033500.2(HK1):c.-141A>G rs1589439508
NM_033500.2(HK1):c.-390-3818G>C rs397514654
NM_033500.2(HK1):c.-390-3838G>C rs797044964

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