ClinVar Miner

List of variants reported for Netherton syndrome by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_006846.4(SPINK5):c.2557C>T (p.Arg853Ter)	rs753621591	0.00001
NM_006846.4(SPINK5):c.1739C>G (p.Pro580Arg)	rs770045852

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