ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive congenital ichthyosis 2 by Baylor Genetics

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.1642C>T (p.Arg548Trp)	rs397514532	0.00003
NM_001139.3(ALOX12B):c.340C>T (p.Arg114Trp)	rs397514526	0.00001
NM_001139.3(ALOX12B):c.403GAG[1] (p.Glu136del)	rs749617913

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