ClinVar Miner

List of variants reported as uncertain significance for allergic disease by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (6):

Astigmatism; Leukodystrophy; Motor delay; Seizure; Short stature; Hypermetropia; Delayed speech and language development; Open mouth; Microcephaly; Strabismus; Amblyopia; EEG with generalized slow activity; Allergy
Atopic eczema; Hypertrichosis; Hypoglycemia; Hyperinsulinemia
Atopic eczema; Ichthyosis
Atopic eczema; Ichthyosis vulgaris
Dermatitis, atopic
Global developmental delay; Posteriorly rotated ears; Anemia; Tapered finger; Hemangioma; Clinodactyly of the 5th finger; Delayed speech and language development; Abnormality of the dentition; Macrocephaly; Bruising susceptibility; Gastroesophageal reflux; Allergy; Heart murmur; Hypotonia; Asthma

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
GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)
NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu)	rs1556619324
NM_173483.4(CYP4F22):c.1211T>C (p.Leu404Pro)	rs1555730246
NM_173483.4(CYP4F22):c.1544G>T (p.Arg515Leu)	rs1425964436

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