ClinVar Miner

List of variants reported for Autosomal recessive congenital ichthyosis 1 by Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics

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Total variants: 1
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HGVS dbSNP
NM_000359.3(TGM1):c.910A>T (p.Ile304Phe) rs753798494

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