ClinVar Miner

List of variants studied for autosomal dominant ichthyosis vulgaris

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 146
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HGVS dbSNP gnomAD frequency
NM_002016.2(FLG):c.6580T>C (p.Tyr2194His) rs2184953 0.36718
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.7633G>A (p.Gly2545Arg) rs3126072 0.30247
NM_002016.2(FLG):c.6498T>C (p.Ser2166=) rs2184954 0.29665
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 0.28029
NM_002016.2(FLG):c.4079G>A (p.Arg1360His) rs11586631 0.24233
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.6072T>C (p.His2024=) rs80353812 0.22174
NM_002016.2(FLG):c.6134G>C (p.Ser2045Thr) rs7546186 0.21962
NM_002016.2(FLG):c.8673G>T (p.Val2891=) rs57672167 0.21698
NM_002016.2(FLG):c.1432C>T (p.Pro478Ser) rs11584340 0.18876
NM_002016.2(FLG):c.7330A>G (p.Lys2444Glu) rs71625200 0.18787
NM_002016.2(FLG):c.9966A>G (p.Gln3322=) rs6681433 0.18589
NM_002016.2(FLG):c.2263G>A (p.Glu755Lys) rs74129461 0.16950
NM_002016.2(FLG):c.7192G>C (p.Glu2398Gln) rs71625201 0.16907
NM_002016.2(FLG):c.8807A>G (p.Asp2936Gly) rs80221306 0.14878
NM_002016.2(FLG):c.5414C>T (p.Ala1805Val) rs12405241 0.14180
NM_002016.2(FLG):c.5672G>A (p.Arg1891Gln) rs12407748 0.14161
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.10779G>C (p.Glu3593Asp) rs12083389 0.09982
NM_002016.2(FLG):c.10903G>A (p.Asp3635Asn) rs75448155 0.03325
NM_002016.2(FLG):c.4678C>T (p.Arg1560Cys) rs151103850 0.03042
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.9658G>C (p.Asp3220His) rs200240824 0.00179
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.7801G>A (p.Asp2601Asn) rs146849256 0.00112
NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter) rs200002200 0.00054
NM_002016.2(FLG):c.4279G>A (p.Ala1427Thr) rs148844389 0.00049
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter) rs146466242 0.00045
NM_002016.2(FLG):c.2067T>C (p.Ser689=) rs138782580 0.00031
NM_002016.2(FLG):c.3321del (p.Gly1109fs) rs200519781 0.00029
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.8497G>T (p.Gly2833Ter) rs771543103 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.7459C>A (p.His2487Asn) rs550139731 0.00006
NM_002016.2(FLG):c.9085C>T (p.Gln3029Ter) rs564628353 0.00006
NM_002016.2(FLG):c.10747G>A (p.Glu3583Lys) rs144652887 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.7031C>G (p.Ser2344Ter) rs372754256 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.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.10054A>G (p.Thr3352Ala) rs759537361 0.00002
NM_002016.2(FLG):c.10324A>T (p.Arg3442Ter) rs764094665 0.00001
NM_002016.2(FLG):c.2779C>T (p.Gln927Ter) rs763988476 0.00001
NM_002016.2(FLG):c.4808_4812dup (p.Glu1605fs) rs775716153 0.00001
NM_002016.2(FLG):c.4966C>T (p.Arg1656Cys) rs775926509 0.00001
NM_002016.2(FLG):c.5476G>T (p.Gly1826Ter) rs760904028 0.00001
NM_002016.2(FLG):c.6014_6015del (p.His2005fs) rs1314484669 0.00001
NM_002016.1(FLG):c.2379_2394delinsTCCTCAG (p.Leu794_Ser798delinsProGln) rs1553213630
NM_002016.2(FLG):c.10012A>T (p.Ser3338Cys) rs1553211230
NM_002016.2(FLG):c.10017G>A (p.Gln3339=)
NM_002016.2(FLG):c.10051_10054del (p.Asp3351fs) rs746608568
NM_002016.2(FLG):c.10194T>C (p.Ser3398=)
NM_002016.2(FLG):c.10255C>T (p.Arg3419Ter) rs143418984
NM_002016.2(FLG):c.10307G>C (p.Gly3436Ala)
NM_002016.2(FLG):c.10350C>A (p.Tyr3450Ter)
NM_002016.2(FLG):c.10459A>T (p.Arg3487Ter) rs1396693199
NM_002016.2(FLG):c.10670G>A (p.Gly3557Glu) rs142157664
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.10926del (p.Ile3642fs)
NM_002016.2(FLG):c.10985G>C (p.Ser3662Thr) rs75235053
NM_002016.2(FLG):c.11048del (p.Gly3683fs) rs1365780833
NM_002016.2(FLG):c.11213G>A (p.Arg3738His)
NM_002016.2(FLG):c.11452C>T (p.Gln3818Ter) rs148606936
NM_002016.2(FLG):c.11539C>T (p.Gln3847Ter) rs1651717933
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.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.2508T>C (p.Asp836=) rs3120653
NM_002016.2(FLG):c.2767dup (p.Ser923fs)
NM_002016.2(FLG):c.2929C>T (p.Gln977Ter) rs144419479
NM_002016.2(FLG):c.2933C>A (p.Ser978Ter) rs575855434
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.3280C>A (p.Pro1094Thr)
NM_002016.2(FLG):c.3424del (p.Gln1142fs)
NM_002016.2(FLG):c.3448C>T (p.Arg1150Ter)
NM_002016.2(FLG):c.3702del (p.Ser1235fs) rs397507563
NM_002016.2(FLG):c.3766C>T (p.Gln1256Ter) rs751147313
NM_002016.2(FLG):c.4126A>G (p.Arg1376Gly) rs11581433
NM_002016.2(FLG):c.440C>T (p.Thr147Ile)
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.4597G>T (p.Gly1533Trp) rs200422428
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.4925_4928del (p.Ser1642fs) rs2101646027
NM_002016.2(FLG):c.5014C>T (p.Gln1672Ter)
NM_002016.2(FLG):c.5051G>A (p.Arg1684His)
NM_002016.2(FLG):c.5095C>T (p.Arg1699Cys)
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.557dup (p.Asn186fs) rs771721862
NM_002016.2(FLG):c.565G>A (p.Glu189Lys) rs1228611224
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.6032_6034del (p.Leu2011del) rs770070270
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.7015G>A (p.Asp2339Asn)
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.7634G>T (p.Gly2545Val)
NM_002016.2(FLG):c.7945del (p.Ser2649fs) rs538406713
NM_002016.2(FLG):c.8307G>C (p.Gln2769His)
NM_002016.2(FLG):c.8343C>T (p.Asp2781=) rs57670307
NM_002016.2(FLG):c.8506A>C (p.Ser2836Arg) rs11582087
NM_002016.2(FLG):c.8671G>T (p.Val2891Leu) rs1446923658
NM_002016.2(FLG):c.8885del (p.Gln2962fs) rs1570897758
NM_002016.2(FLG):c.899_903del (p.Asp300fs) rs1060499587
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
NM_002016.2(FLG):c.995G>T (p.Gly332Val)

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