ClinVar Miner

List of variants studied for Ichthyosis vulgaris by Johns Hopkins Genomics, Johns Hopkins University

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter) rs149484917 0.00246
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter) rs115746363 0.00243
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137

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