ClinVar Miner

List of variants in gene ACE 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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000789.4(ACE):c.2371C>T (p.Arg791Ter)	rs397514689	0.00002
NM_000789.4(ACE):c.1473_1475delinsA (p.Asp491fs)	rs1599142041
NM_000789.4(ACE):c.444_445insTTAGC (p.Arg149fs)	rs778759606
NM_000789.4(ACE):c.793C>T (p.Arg265Ter)

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