ClinVar Miner

List of variants studied for Ichthyosis vulgaris by Genome-Nilou Lab

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ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_002016.2(FLG):c.6580T>C (p.Tyr2194His) rs2184953 0.37130
NM_002016.2(FLG):c.3500C>G (p.Ala1167Gly) rs58001094 0.36345
NM_002016.2(FLG):c.10473T>C (p.Asn3491=) rs3126067 0.35326
NM_002016.2(FLG):c.10307G>C (p.Gly3436Ala) rs2065955 0.34786
NM_002016.2(FLG):c.6498T>C (p.Ser2166=) rs2184954 0.30536
NM_002016.2(FLG):c.10194T>C (p.Ser3398=) rs3091276 0.30376
NM_002016.2(FLG):c.7633G>A (p.Gly2545Arg) rs3126072 0.30247
NM_002016.2(FLG):c.1360A>G (p.Thr454Ala) rs2011331 0.29513
NM_002016.2(FLG):c.3387T>C (p.Ser1129=) rs66831674 0.29380
NM_002016.2(FLG):c.7521C>G (p.His2507Gln) rs3126074 0.29374
NM_002016.2(FLG):c.10491T>C (p.Asp3497=) rs3126066 0.28719
NM_002016.2(FLG):c.8673G>T (p.Val2891=) rs57672167 0.23096
NM_002016.2(FLG):c.6072T>C (p.His2024=) rs80353812 0.22566
NM_002016.2(FLG):c.6355T>C (p.Tyr2119His) rs7512553 0.22529
NM_002016.2(FLG):c.6354T>C (p.His2118=) rs7512554 0.22510
NM_002016.2(FLG):c.6323C>T (p.Ala2108Val) rs7522925 0.22487
NM_002016.2(FLG):c.6134G>C (p.Ser2045Thr) rs7546186 0.21962
NM_002016.2(FLG):c.7330A>G (p.Lys2444Glu) rs71625200 0.20240
NM_002016.2(FLG):c.995G>T (p.Gly332Val) rs41267154 0.20045
NM_002016.2(FLG):c.9966A>G (p.Gln3322=) rs6681433 0.20042
NM_002016.2(FLG):c.1432C>T (p.Pro478Ser) rs11584340 0.18876
NM_002016.2(FLG):c.2263G>A (p.Glu755Lys) rs74129461 0.18505
NM_002016.2(FLG):c.10779G>C (p.Glu3593Asp) rs12083389 0.18316
NM_002016.2(FLG):c.7192G>C (p.Glu2398Gln) rs71625201 0.17900
NM_002016.2(FLG):c.4079G>A (p.Arg1360His) rs11586631 0.17152
NM_002016.2(FLG):c.8807A>G (p.Asp2936Gly) rs80221306 0.15808
NM_002016.2(FLG):c.11213G>A (p.Arg3738His) rs77422831 0.15641
NM_002016.2(FLG):c.5414C>T (p.Ala1805Val) rs12405241 0.15613
NM_002016.2(FLG):c.5672G>A (p.Arg1891Gln) rs12407748 0.15596
NM_002016.2(FLG):c.10017G>A (p.Gln3339=) rs2065956 0.15595
NM_002016.2(FLG):c.1330G>A (p.Gly444Arg) rs11588170 0.14153
NM_002016.2(FLG):c.7097G>C (p.Ser2366Thr) rs71625202 0.13600
NM_002016.2(FLG):c.7015G>A (p.Asp2339Asn) rs139476473 0.12533
NM_002016.2(FLG):c.8343C>T (p.Asp2781=) rs57670307 0.09637
NM_002016.2(FLG):c.10903G>A (p.Asp3635Asn) rs75448155 0.03325
NM_002016.2(FLG):c.4678C>T (p.Arg1560Cys) rs151103850 0.02982
NM_002016.2(FLG):c.10985G>C (p.Ser3662Thr) rs75235053 0.02237
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.9151C>T (p.Arg3051Trp) rs775324468 0.00119
NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter) rs200002200 0.00054
NM_002016.2(FLG):c.3321del (p.Gly1109fs) rs200519781 0.00036
NM_002016.2(FLG):c.7634G>T (p.Gly2545Val) rs145899257 0.00035
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.2362C>T (p.Arg788Ter) rs183942200 0.00012
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.440C>T (p.Thr147Ile) rs779997918 0.00005
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.10225C>T (p.Arg3409Ter) rs201356558 0.00003
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.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.4808_4812dup (p.Glu1605fs) rs775716153 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.10736C>G (p.Thr3579Arg) rs3126075
NM_002016.2(FLG):c.10764C>T (p.His3588=) rs12742178
NM_002016.2(FLG):c.11452C>T (p.Gln3818Ter) rs148606936
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.1830del (p.Arg612fs) rs1570913142
NM_002016.2(FLG):c.2508T>C (p.Asp836=) rs3120653
NM_002016.2(FLG):c.2929C>T (p.Gln977Ter) rs144419479
NM_002016.2(FLG):c.2938C>G (p.His980Asp) rs12756586
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.3702del (p.Ser1235fs) rs397507563
NM_002016.2(FLG):c.4126A>G (p.Arg1376Gly) rs11581433
NM_002016.2(FLG):c.4420C>T (p.Arg1474Ter) rs146686141
NM_002016.2(FLG):c.4445C>A (p.Ser1482Tyr) rs11204978
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.5051G>A (p.Arg1684His) rs12407807
NM_002016.2(FLG):c.5095C>T (p.Arg1699Cys) rs12405278
NM_002016.2(FLG):c.5828T>A (p.Leu1943His) rs113544881
NM_002016.2(FLG):c.5839T>G (p.Trp1947Gly) rs80059102
NM_002016.2(FLG):c.5883C>A (p.His1961Gln) rs3126079
NM_002016.2(FLG):c.6058T>G (p.Ser2020Ala) rs7512857
NM_002016.2(FLG):c.6462A>C (p.Gln2154His) rs74129452
NM_002016.2(FLG):c.6652G>A (p.Asp2218Asn) rs143707744
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer) rs578184315
NM_002016.2(FLG):c.6990C>T (p.His2330=) rs6664985
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002016.2(FLG):c.7442T>C (p.Leu2481Ser) rs55650366
NM_002016.2(FLG):c.7945del (p.Ser2649fs) rs538406713
NM_002016.2(FLG):c.8506A>C (p.Ser2836Arg) rs11582087
NM_002016.2(FLG):c.9536T>G (p.Val3179Gly) rs2065957
NM_002016.2(FLG):c.9540A>G (p.Ser3180=) rs3126069
NM_002016.2(FLG):c.9645G>T (p.Val3215=) rs9436066

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