ClinVar Miner

List of variants studied for autosomal recessive congenital ichthyosis 2 by Juno Genomics, Hangzhou Juno Genomics, Inc

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001139.3(ALOX12B):c.1405C>T (p.Arg469Trp) rs559401066 0.00002
NM_001139.3(ALOX12B):c.1324C>T (p.Arg442Trp) rs764862348 0.00001
NM_001139.3(ALOX12B):c.1463G>A (p.Arg488His) rs763468558 0.00001
NM_001139.3(ALOX12B):c.1693C>T (p.Arg565Ter)
NM_001139.3(ALOX12B):c.1798C>T (p.Arg600Trp)
NM_001139.3(ALOX12B):c.802T>C (p.Tyr268His)

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