ClinVar Miner

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

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe) rs374550999 0.00093
NM_000352.6(ABCC8):c.2921-9G>A rs757171524 0.00003
NM_000545.8(HNF1A):c.29C>T (p.Thr10Met) rs774637975 0.00002
NM_000162.5(GCK):c.370G>A (p.Asp124Asn) rs759072800 0.00001
NM_000162.5(GCK):c.787T>C (p.Ser263Pro) rs193922331 0.00001
NM_000162.5(GCK):c.908G>A (p.Arg303Gln) rs1312678560 0.00001
NM_000352.6(ABCC8):c.1532T>C (p.Leu511Pro) rs797045206 0.00001
NM_000352.6(ABCC8):c.4628T>C (p.Leu1543Pro) rs72559713 0.00001
NM_000525.4(KCNJ11):c.79C>T (p.Arg27Cys) rs752507753 0.00001
NM_024989.4(PGAP1):c.2204T>A (p.Leu735Ter) rs1361547443 0.00001
NM_000162.5(GCK):c.1112G>T (p.Cys371Phe) rs587780343
NM_000162.5(GCK):c.1148C>T (p.Ser383Leu) rs777870079
NM_000162.5(GCK):c.1173C>A (p.Asn391Lys) rs1554334579
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu) rs1286804191
NM_000162.5(GCK):c.364C>A (p.Leu122Ile) rs1554335616
NM_000162.5(GCK):c.616A>C (p.Thr206Pro) rs587780346
NM_000162.5(GCK):c.824G>T (p.Arg275Leu) rs767565869
NM_000162.5(GCK):c.98T>A (p.Val33Glu) rs1554335954
NM_000207.3(INS):c.308A>G (p.Tyr103Cys) rs121908277
NM_000209.4(PDX1):c.502A>C (p.Asn168His) rs1555241857
NM_000352.6(ABCC8):c.2143G>A (p.Val715Met) rs1554924142
NM_000352.6(ABCC8):c.239T>G (p.Met80Arg) rs797045208
NM_000352.6(ABCC8):c.4109C>T (p.Pro1370Leu) rs1554905662
NM_000352.6(ABCC8):c.4265C>G (p.Ser1422Cys) rs1554904936
NM_000352.6(ABCC8):c.4451G>T (p.Gly1484Val) rs193922405
NM_000352.6(ABCC8):c.4516_4536dup (p.Glu1506_Asp1512dup) rs797045212
NM_000352.6(ABCC8):c.4615G>A (p.Val1539Met) rs193922408
NM_000525.4(KCNJ11):c.866G>C (p.Gly289Ala) rs797045637
NM_000525.4(KCNJ11):c.866G>T (p.Gly289Val) rs797045637
NM_000525.4(KCNJ11):c.868G>A (p.Val290Met) rs750414160
NM_000545.8(HNF1A):c.676_678del (p.Lys226del) rs1555211927
NM_001931.5(DLAT):c.848_849del (p.Asp283fs) rs782704553
NM_005271.5(GLUD1):c.1498G>A (p.Ala500Thr) rs797045597
NM_006516.4(SLC2A1):c.100A>G (p.Asn34Asp) rs587784390
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_016219.5(MAN1B1):c.530_542del (p.Leu177fs) rs797045688
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln) rs1555813319
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del) rs1280663753
NM_175914.5(HNF4A):c.740T>C (p.Leu247Pro) rs1555816654
NM_175914.5(HNF4A):c.944TGC[6] (p.Leu319dup) rs776489992

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