ClinVar Miner

List of variants studied for Autosomal recessive congenital ichthyosis 10 by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001374623.1(PNPLA1):c.212A>G (p.Tyr71Cys)
NM_001374623.1(PNPLA1):c.715-2A>C
NM_001374623.1(PNPLA1):c.88G>A (p.Gly30Arg)

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