ClinVar Miner

List of variants in gene FLG reported as pathogenic for autosomal dominant ichthyosis vulgaris

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 29
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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.9740C>A (p.Ser3247Ter) rs150597413 0.00144
NM_002016.2(FLG):c.3321del (p.Gly1109fs) rs200519781 0.00029
NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter) rs147145234 0.00014
NM_002016.2(FLG):c.3905C>A (p.Ser1302Ter) rs754812742 0.00006
NM_002016.2(FLG):c.4544C>A (p.Ser1515Ter) rs180768115 0.00006
NM_002016.2(FLG):c.7264G>T (p.Glu2422Ter) rs374588791 0.00006
NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter) rs749083759 0.00004
NM_002016.2(FLG):c.2218C>T (p.Arg740Ter) rs777181377 0.00004
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter) rs372754256 0.00004
NM_002016.2(FLG):c.1063C>T (p.Gln355Ter) rs142991475 0.00003
NM_002016.2(FLG):c.7189C>T (p.Gln2397Ter) rs535289422 0.00003
NM_002016.2(FLG):c.7249C>T (p.Gln2417Ter) rs528722713 0.00003
NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter) rs121909626 0.00003
NM_002016.2(FLG):c.8117C>G (p.Ser2706Ter) rs542799026 0.00003
NM_002016.2(FLG):c.9887C>A (p.Ser3296Ter) rs761212672 0.00003
NM_002016.2(FLG):c.11452C>T (p.Gln3818Ter) rs148606936
NM_002016.2(FLG):c.1830del (p.Arg612fs) rs1570913142
NM_002016.2(FLG):c.2143C>T (p.Gln715Ter) rs797045090
NM_002016.2(FLG):c.2976_2977del (p.Arg992fs) rs776968118
NM_002016.2(FLG):c.3222_3225del (p.Ser1074fs) rs745915174
NM_002016.2(FLG):c.3448C>T (p.Arg1150Ter)
NM_002016.2(FLG):c.3702del (p.Ser1235fs) rs397507563
NM_002016.2(FLG):c.4785_4788del (p.Ser1595fs) rs761519693
NM_002016.2(FLG):c.487G>T (p.Gly163Ter) rs1214424848
NM_002016.2(FLG):c.5198C>G (p.Ser1733Ter) rs1310447389
NM_002016.2(FLG):c.5368C>T (p.Gln1790Ter) rs200622741
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) rs578184315
NM_002016.2(FLG):c.7945del (p.Ser2649fs) rs538406713

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