ClinVar Miner

List of variants reported as pathogenic for microvascular complications of diabetes, susceptibility

Included ClinVar conditions (10):

Alzheimer disease; Variegate porphyria; Microvascular complications of diabetes, susceptibility to, 7; Hemochromatosis type 1; Transferrin serum level quantitative trait locus 2; Familial porphyria cutanea tarda
Microvascular complications of diabetes, susceptibility to, 1
Microvascular complications of diabetes, susceptibility to, 2
Microvascular complications of diabetes, susceptibility to, 3
Microvascular complications of diabetes, susceptibility to, 3; Hemorrhage, intracerebral, susceptibility to; Renal tubular dysgenesis of genetic origin
Microvascular complications of diabetes, susceptibility to, 4
Microvascular complications of diabetes, susceptibility to, 4; Sterile multifocal osteomyelitis with periostitis and pustulosis; Gastric cancer
Microvascular complications of diabetes, susceptibility to, 5
Microvascular complications of diabetes, susceptibility to, 6
Variegate porphyria; Microvascular complications of diabetes, susceptibility to, 7; Alzheimer disease type 1; Hemochromatosis type 1; Transferrin serum level quantitative trait locus 2; Familial porphyria cutanea tarda

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Minimum conflict level: Report conflict between different conditions
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000410.4(HFE):c.187C>G (p.His63Asp)	rs1799945	0.10170
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)	rs1800562	0.03880
NM_000410.4(HFE):c.1006+1G>A	rs573745685	0.00004
NM_000789.4(ACE):c.2371C>T (p.Arg791Ter)	rs397514689	0.00002

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