ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Ege University Pediatric Genetics,Ege University

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000203.5(IDUA):c.1049A>G (p.Asn350Ser) rs1577541140
NM_000263.4(NAGLU):c.1546C>T (p.Pro516Ser) rs1599261339
NM_000263.4(NAGLU):c.1969G>C (p.Asp657His) rs1599262171
NM_000642.3(AGL):c.2113A>G (p.Ile705Val) rs1570445259
NM_000642.3(AGL):c.3677T>C (p.Ile1226Thr) rs749118487
NM_000642.3(AGL):c.847-3C>A rs1571243667
NM_005609.4(PYGM):c.2053A>C (p.Asn685His) rs1592408348

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