ClinVar Miner

List of variants studied for Autosomal recessive congenital ichthyosis 6 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_001099287.2(NIPAL4):c.341C>A (p.Ala114Asp) rs199422217 0.00077
NM_001099287.2(NIPAL4):c.703G>A (p.Gly235Arg) rs375688767 0.00006

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