ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin

Included ClinVar conditions (304):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter) rs200667343 0.00007
NM_000188.3(HK1):c.281G>A (p.Arg94Gln) rs1176654400 0.00001
NM_004130.4(GYG1):c.487del (p.Asp163fs) rs727502871
NM_006765.4(TUSC3):c.420dup (p.Gln141fs) rs773426468

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