ClinVar Miner

List of variants reported as likely benign for essential fructosuria by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006488.3(KHK):c.*27A>G rs189674797 0.00278
NM_006488.3(KHK):c.527G>A (p.Arg176Gln) rs143669793 0.00227
NM_006488.3(KHK):c.189G>A (p.Met63Ile) rs142663158 0.00108
NM_006488.3(KHK):c.885T>C (p.Asp295=) rs144476131 0.00095
NM_006488.3(KHK):c.*623G>A rs192172107 0.00056
NM_006488.3(KHK):c.*20AC[2] rs370253620

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