ClinVar Miner

List of variants studied for Autosomal recessive congenital ichthyosis 6 by Fulgent Genetics, Fulgent Genetics

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Total variants: 4
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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.-17C>A
NM_001099287.2(NIPAL4):c.1105dup (p.Glu369fs)
NM_001099287.2(NIPAL4):c.247C>T (p.Arg83Ter) rs199422216

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