ClinVar Miner

List of variants reported as uncertain significance for congenital non-bullous ichthyosiform erythroderma by Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University

Included ClinVar conditions (8):

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: 3

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HGVS	dbSNP	gnomAD frequency
NM_021628.3(ALOXE3):c.1486C>T (p.Arg496Trp)	rs867780319	0.00007
NM_001139.3(ALOX12B):c.1214T>G (p.Ile405Ser)	rs369593974
NM_001139.3(ALOX12B):c.628TTC[1] (p.Phe211del)	rs1026084346

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