ClinVar Miner

List of variants reported as likely pathogenic for microvascular complications of diabetes, susceptibility by Fulgent Genetics, Fulgent Genetics

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
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_000410.4(HFE):c.546_547del (p.Leu183fs)	rs765804978	0.00002
NM_000789.4(ACE):c.3521del (p.Gly1174fs)	rs754265941
NM_000789.4(ACE):c.35TGC[1] (p.Leu13_Leu14del)	rs900084108
NM_000789.4(ACE):c.47_70del (p.Leu16_Pro23del)	rs983649759

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