ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Mayo Clinic Laboratories, Mayo Clinic

Included ClinVar conditions (305):
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ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968 0.00237
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_006765.4(TUSC3):c.38C>T (p.Ala13Val) rs200808372 0.00054
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175 0.00034
NM_000528.4(MAN2B1):c.2401G>T (p.Gly801Cys) rs142702682 0.00030
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys) rs104894636 0.00021
NM_001931.5(DLAT):c.572C>T (p.Ala191Val) rs200500508 0.00016
NM_001160372.4(TRAPPC9):c.3211G>A (p.Gly1071Ser) rs200963473 0.00014
NM_001543.5(NDST1):c.1360C>T (p.Arg454Cys) rs150009231 0.00011
NM_031466.8(TRAPPC9):c.-74C>A rs139214686 0.00011
NM_004830.4(MED23):c.367C>T (p.Arg123Trp) rs374403178 0.00006
NM_000291.4(PGK1):c.248T>C (p.Val83Ala) rs138851144 0.00005
NM_000158.4(GBE1):c.1286G>C (p.Gly429Ala) rs745594101 0.00003
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228 0.00002
NM_001931.5(DLAT):c.1202C>T (p.Pro401Leu) rs781794850 0.00001
NM_000046.5(ARSB):c.928A>G (p.Asn310Asp) rs1402584432
NM_000152.5(GAA):c.212A>G (p.His71Arg) rs760205477
NM_000352.6(ABCC8):c.1391C>T (p.Ala464Val) rs1554933525
NM_001543.5(NDST1):c.2401A>T (p.Thr801Ser) rs760333260
NM_016219.5(MAN1B1):c.1883G>T (p.Ser628Ile) rs797045687

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