ClinVar Miner

List of variants reported as pathogenic for Netherton syndrome by Juno Genomics, Hangzhou Juno Genomics, Inc

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006846.4(SPINK5):c.2260A>T (p.Lys754Ter)	rs750789505	0.00004
NM_006846.4(SPINK5):c.410+1G>A	rs375224787	0.00001
NM_006846.4(SPINK5):c.2468del (p.Lys823fs)	rs565782662

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