ClinVar Miner

List of variants in gene ACE, LOC130061383 studied 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
		ClinVar version:

Total variants: 3

Download table as spreadsheet

HGVS	dbSNP	gnomAD frequency
NM_000789.4(ACE):c.231G>A (p.Ala77=)	rs184457276	0.00629
NM_000789.4(ACE):c.249+16C>G	rs1568035049	0.00003
NM_000789.4(ACE):c.249+15C>G	rs1392845930	0.00002

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