ClinVar Miner

List of variants reported as likely pathogenic for Ichthyosis vulgaris

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Total variants: 36
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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.94G>T (p.Glu32Ter) rs114733570 0.00021
NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter) rs147145234 0.00014
NM_002016.2(FLG):c.2362C>T (p.Arg788Ter) rs183942200 0.00013
NM_002016.2(FLG):c.7837A>T (p.Arg2613Ter) rs567795279 0.00010
NM_002016.2(FLG):c.7487del (p.Thr2496fs) rs774362740 0.00005
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.10225C>T (p.Arg3409Ter) rs201356558 0.00003
NM_002016.2(FLG):c.138+1G>C rs756254959 0.00003
NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter) rs121909626 0.00003
NM_002016.2(FLG):c.4808_4812dup (p.Glu1605fs) rs775716153 0.00001
NM_002016.2(FLG):c.6014_6015del (p.His2005fs) rs1314484669 0.00001
NM_002016.2(FLG):c.10051_10054del (p.Asp3351fs) rs746608568
NM_002016.2(FLG):c.10350C>A (p.Tyr3450Ter)
NM_002016.2(FLG):c.10459A>T (p.Arg3487Ter) rs1396693199
NM_002016.2(FLG):c.10926del (p.Ile3642fs)
NM_002016.2(FLG):c.11048del (p.Gly3683fs) rs1365780833
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.1714C>T (p.Arg572Ter) rs200601767
NM_002016.2(FLG):c.1739del (p.Gly580fs) rs2101651357
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.2767dup (p.Ser923fs)
NM_002016.2(FLG):c.2933C>A (p.Ser978Ter) rs575855434
NM_002016.2(FLG):c.3424del (p.Gln1142fs)
NM_002016.2(FLG):c.4785_4788del (p.Ser1595fs) rs761519693
NM_002016.2(FLG):c.4925_4928del (p.Ser1642fs) rs2101646027
NM_002016.2(FLG):c.5014C>T (p.Gln1672Ter)
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.8885del (p.Gln2962fs) rs1570897758
NM_002016.2(FLG):c.899_903del (p.Asp300fs) rs1060499587

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