ClinVar Miner

List of variants studied for Ichthyosis vulgaris by Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_002016.2(FLG):c.5717C>A (p.Ser1906Ter) rs141784184 0.00584
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter) rs146466242 0.00045
NM_002016.2(FLG):c.3905C>A (p.Ser1302Ter) rs754812742 0.00006
NM_002016.2(FLG):c.7189C>T (p.Gln2397Ter) rs535289422 0.00003
NM_002016.2(FLG):c.9887C>A (p.Ser3296Ter) rs761212672 0.00001

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