ClinVar Miner

List of variants reported as uncertain significance for Autosomal recessive congenital ichthyosis 1 by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_000359.3(TGM1):c.344T>G (p.Val115Gly)	rs2502508286
NM_000359.3(TGM1):c.577T>C (p.Trp193Arg)	rs2502506012
NM_000359.3(TGM1):c.748T>G (p.Trp250Gly)	rs318240748

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