ClinVar Miner

List of variants reported as pathogenic for carbohydrate metabolism disease by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 45
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HGVS dbSNP
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter) rs752921215
NM_000158.4(GBE1):c.415G>T (p.Gly139Ter) rs1553690406
NM_000162.5(GCK):c.1165G>C (p.Val389Leu) rs1350717554
NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup) rs1554334433
NM_000208.4(INSR):c.1610+2T>C rs797045624
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000352.5(ABCC8):c.2117-1G>A rs797045207
NM_000352.5(ABCC8):c.4119+1G>A rs797045211
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter) rs768951263
NM_000352.6(ABCC8):c.1752del (p.His584fs) rs1554926539
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter) rs139328569
NM_000352.6(ABCC8):c.1879del (p.His627fs) rs764613146
NM_000352.6(ABCC8):c.2295_2307delinsAA (p.Arg766fs) rs1554917411
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter) rs72559722
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter) rs541269678
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter) rs769518471
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg) rs761749884
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs) rs587783169
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del) rs151344624
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg) rs971604271
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000352.6(ABCC8):c.4450G>A (p.Gly1484Arg) rs1554904102
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys) rs137852671
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser) rs797045213
NM_000434.4(NEU1):c.114_115del (p.Leu40fs) rs754405067
NM_000525.3(KCNJ11):c.406C>T (p.Arg136Cys) rs766891274
NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196
NM_000525.3(KCNJ11):c.881C>T (p.Thr294Met) rs780957825
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter) rs768514713
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val) rs104893686
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu) rs121909731
NM_005271.5(GLUD1):c.1496G>A (p.Gly499Asp) rs121909734
NM_005271.5(GLUD1):c.965G>A (p.Arg322His) rs121909737
NM_006516.2(SLC2A1):c.19_28delAAGCTGACGG (p.Lys7Valfs) rs587784393
NM_006516.3(SLC2A1):c.1089del (p.Pro362_Trp363insTer) rs587784391
NM_006516.3(SLC2A1):c.377G>A (p.Arg126His) rs80359816
NM_006516.3(SLC2A1):c.49G>T (p.Gly17Ter) rs1345986424
NM_006516.3(SLC2A1):c.748C>T (p.Gln250Ter) rs587784396
NM_006516.3(SLC2A1):c.823G>A (p.Ala275Thr) rs121909740
NM_006516.3(SLC2A1):c.847C>T (p.Gln283Ter) rs587784397
NM_006516.3(SLC2A1):c.884C>T (p.Thr295Met) rs80359823

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