ClinVar Miner

List of variants in gene HK1 reported as pathogenic for retinal disorder

Included ClinVar conditions (500):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000188.3(HK1):c.2539G>A (p.Glu847Lys) rs777849213 0.00001
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848

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