ClinVar Miner

List of variants reported as benign for autosomal recessive congenital ichthyosis 2 by Genome-Nilou Lab

Included ClinVar conditions (1):

Autosomal recessive congenital ichthyosis 2

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_001139.3(ALOX12B):c.1532+30T>C	rs2289586	0.86344
NM_001139.3(ALOX12B):c.1655-30T>C	rs12937410	0.85718
NM_001139.3(ALOX12B):c.147+59_147+60del	rs112884117

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