ClinVar Miner

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

Included ClinVar conditions (130):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_033500.2(HK1):c.-138G>A
NM_033500.2(HK1):c.-390-3818G>C rs397514654
NM_033500.2(HK1):c.-390-3838G>C rs797044964
NM_033500.2(HK1):c.1334C>T (p.Thr445Met) rs1057517928

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