ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp) rs1402584432
NM_000152.5(GAA):c.212A>G (p.His71Arg) rs760205477
NM_000158.4(GBE1):c.1286G>C (p.Gly429Ala) rs745594101
NM_000158.4(GBE1):c.1492G>A (p.Glu498Lys) rs201758548
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144
NM_000352.6(ABCC8):c.1391C>T (p.Ala464Val) rs1554933525
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968
NM_001931.5(DLAT):c.1202C>T (p.Pro401Leu) rs781794850
NM_001931.5(DLAT):c.572C>T (p.Ala191Val) rs200500508

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