ClinVar Miner

List of variants studied for Ichthyosis vulgaris by OMIM

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_002016.2(FLG):c.3321del (p.Gly1109fs) rs200519781 0.00036
NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter) rs121909626 0.00003
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137

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