ClinVar Miner

List of variants reported as likely benign for carbohydrate metabolism disease by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000263.4(NAGLU):c.1446G>A (p.Arg482=) rs115994665
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577
NM_001352514.2(HLCS):c.2113G>A (p.Glu705Lys) rs149736764
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853
NM_001931.5(DLAT):c.946C>T (p.Pro316Ser) rs149088081

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