List of variants reported as pathogenic for Ichthyosis vulgaris

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 51

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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.9947C>G (p.Ser3316Ter)	rs149484917	0.00246
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)	rs115746363	0.00243
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter)	rs150597413	0.00144
NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter)	rs200002200	0.00054
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter)	rs146466242	0.00045
NM_002016.2(FLG):c.3321del (p.Gly1109fs)	rs200519781	0.00036
NM_002016.2(FLG):c.94G>T (p.Glu32Ter)	rs114733570	0.00021
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter)	rs372754256	0.00015
NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter)	rs147145234	0.00014
NM_002016.2(FLG):c.7837A>T (p.Arg2613Ter)	rs567795279	0.00010
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.9085C>T (p.Gln3029Ter)	rs564628353	0.00006
NM_002016.2(FLG):c.7487del (p.Thr2496fs)	rs774362740	0.00005
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.1063C>T (p.Gln355Ter)	rs142991475	0.00003
NM_002016.2(FLG):c.138+1G>C	rs756254959	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.2779C>T (p.Gln927Ter)	rs763988476	0.00001
NM_002016.2(FLG):c.9887C>A (p.Ser3296Ter)	rs761212672	0.00001
NM_002016.2(FLG):c.10255C>T (p.Arg3419Ter)	rs143418984
NM_002016.2(FLG):c.11452C>T (p.Gln3818Ter)	rs148606936
NM_002016.2(FLG):c.1217C>G (p.Ser406Ter)
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)	rs61816761
NM_002016.2(FLG):c.1776del (p.Ser593fs)
NM_002016.2(FLG):c.1830del (p.Arg612fs)	rs1570913142
NM_002016.2(FLG):c.2143C>T (p.Gln715Ter)	rs797045090
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)	rs558269137
NM_002016.2(FLG):c.2929C>T (p.Gln977Ter)	rs144419479
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)	rs755996559
NM_002016.2(FLG):c.3632C>A (p.Ser1211Ter)
NM_002016.2(FLG):c.3702del (p.Ser1235fs)	rs397507563
NM_002016.2(FLG):c.3766C>T (p.Gln1256Ter)	rs751147313
NM_002016.2(FLG):c.4420C>T (p.Arg1474Ter)	rs146686141
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.5930C>G (p.Ser1977Ter)	rs140980397
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer)	rs578184315
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)	rs138726443
NM_002016.2(FLG):c.7945del (p.Ser2649fs)	rs538406713
NM_002016.2(FLG):c.9815_9818del (p.Arg3272fs)	rs769826402

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