ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro) rs1800546 0.00319
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529 0.00225
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579 0.00192
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690 0.00094
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter) rs121965019 0.00086
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414 0.00080
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_018297.4(NGLY1):c.1201A>T (p.Arg401Ter) rs201337954 0.00031
NM_000199.5(SGSH):c.892T>C (p.Ser298Pro) rs138504221 0.00015
NM_000642.3(AGL):c.256C>T (p.Gln86Ter) rs193186112 0.00014
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys) rs398123546 0.00014
NM_000263.4(NAGLU):c.889C>T (p.Arg297Ter) rs104894592 0.00010
NM_000528.4(MAN2B1):c.1830+1G>C rs80338677 0.00008
NM_000528.4(MAN2B1):c.2426T>C (p.Leu809Pro) rs80338681 0.00006
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter) rs373345919 0.00003
NM_000152.5(GAA):c.1831G>A (p.Gly611Ser) rs1278340100 0.00002
NM_001164277.2(SLC37A4):c.742C>T (p.Gln248Ter) rs781784543 0.00002
NM_000642.3(AGL):c.595C>T (p.Gln199Ter) rs780694207 0.00001
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928 0.00001
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000202.8(IDS):c.1504T>G (p.Trp502Gly) rs2089304297
NM_000208.4(INSR):c.1573C>T (p.Arg525Ter) rs1599937180
NM_000284.4(PDHA1):c.628A>G (p.Met210Val) rs794727843
NM_000525.4(KCNJ11):c.160dup (p.Arg54fs)
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000642.3(AGL):c.118C>T (p.Gln40Ter) rs771961377
NM_000642.3(AGL):c.4249_4250del (p.Leu1417fs)
NM_000642.3(AGL):c.4562C>T (p.Ser1521Leu)
NM_001040616.3(LINS1):c.431del (p.Leu144fs) rs764442764
NM_001136035.4(TRMT1):c.35del (p.Phe12fs)
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His) rs193302903
NM_003619.4(PRSS12):c.441_442del (p.Trp148fs) rs760638778
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln) rs1553155986
NM_006765.4(TUSC3):c.55_69delinsGC (p.Tyr19fs)
NM_018255.4(ELP2):c.293dup (p.Leu98fs) rs529659464

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