ClinVar Miner

List of variants reported as uncertain significance for carbohydrate metabolism disease by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Included ClinVar conditions (305):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_000209.4(PDX1):c.-18C>T rs193922351 0.00540
NM_000162.5(GCK):c.46-12C>T rs142829768 0.00296
NM_000162.5(GCK):c.208+11G>A rs77440690 0.00124
NM_000458.4(HNF1B):c.1045+12T>C rs141166864 0.00097
NM_175914.5(HNF4A):c.426+6G>A rs182980547 0.00070
NM_175914.5(HNF4A):c.826+30dup rs193922478 0.00035
NM_000545.8(HNF1A):c.1624-19G>A rs193922586 0.00011
NM_000545.8(HNF1A):c.954C>T (p.His318=) rs193922607 0.00006
NM_000458.4(HNF1B):c.1654-4G>A rs193922485 0.00005
NM_000545.8(HNF1A):c.1310-12C>T rs193922579 0.00004
NM_000545.8(HNF1A):c.1624-15G>A rs193922585 0.00004
NM_000162.5(GCK):c.-5T>C rs193922251 0.00003
NM_000545.8(HNF1A):c.713+14C>T rs193922601 0.00001
GCK:c.864-159_864-149del rs386134235
NM_000155.4(GALT):c.82G>A (p.Asp28Asn) rs111033636
NM_000162.5(GCK):c.1019+16G>A rs193922256
NM_000162.5(GCK):c.208+9T>A rs193922288
NM_000162.5(GCK):c.364-41dup rs193922293
NM_000162.5(GCK):c.364-49dup rs193922294
NM_000162.5(GCK):c.680-94dup rs193922321
NM_000162.5(GCK):c.863+3A>G rs193922334
NM_000209.4(PDX1):c.-50CTCCCGG[5] rs193922352
NM_000352.6(ABCC8):c.1332+17G>C rs193922395
NM_000458.4(HNF1B):c.-14dup rs193922481
NM_000458.4(HNF1B):c.1654-11_1654-9delinsC rs386134268
NM_000545.8(HNF1A):c.1768+65dup rs193922590
NM_000545.8(HNF1A):c.326+4A>G rs193922595

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