ClinVar Miner

List of variants reported for Autosomal recessive congenital ichthyosis 5 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_173483.4(CYP4F22):c.1001T>C (p.Phe334Ser) rs2513156213
NM_173483.4(CYP4F22):c.1190G>A (p.Arg397His)
NM_173483.4(CYP4F22):c.671+5G>A

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