ClinVar Miner

List of variants reported as likely benign for carbohydrate metabolism disease by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_198586.3(NHLRC1):c.681T>A (p.Asn227Lys) rs140850172 0.00067
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150 0.00042
NM_000352.6(ABCC8):c.2062T>G (p.Trp688Gly) rs1955658642

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