ClinVar Miner

List of variants studied for Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease dominant intermediate E by Fulgent Genetics, Fulgent Genetics

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ClinVar version:
Total variants: 157
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HGVS dbSNP gnomAD frequency
NM_022489.4(INF2):c.42G>A (p.Leu14=) rs62638758 0.01192
NM_022489.4(INF2):c.3153C>T (p.Asp1051=) rs117457867 0.01185
NM_022489.4(INF2):c.879G>A (p.Ser293=) rs184709736 0.00543
NM_022489.4(INF2):c.1263A>C (p.Pro421=) rs761903419 0.00483
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr) rs201323100 0.00470
NM_022489.4(INF2):c.2138+9G>A rs201065953 0.00213
NM_022489.4(INF2):c.2490-20C>T rs187104422 0.00170
NM_022489.4(INF2):c.558C>T (p.Ser186=) rs150714865 0.00158
NM_022489.4(INF2):c.264C>T (p.Gly88=) rs201587219 0.00150
NM_022489.4(INF2):c.507+7G>A rs201568246 0.00095
NM_022489.4(INF2):c.1773C>T (p.Asp591=) rs201853087 0.00038
NM_022489.4(INF2):c.2181G>A (p.Ala727=) rs370830904 0.00038
NM_022489.4(INF2):c.2775+20C>A rs532636302 0.00032
NM_022489.4(INF2):c.1632T>C (p.His544=) rs374940901 0.00030
NM_022489.4(INF2):c.609C>T (p.Ala203=) rs140017506 0.00028
NM_022489.4(INF2):c.1736-18C>T rs199612826 0.00022
NM_022489.4(INF2):c.2418+10G>T rs748035327 0.00018
NM_022489.4(INF2):c.1736-6C>T rs371991103 0.00015
NM_022489.4(INF2):c.306C>T (p.Val102=) rs748335660 0.00014
NM_022489.4(INF2):c.3684G>A (p.Arg1228=) rs189263181 0.00014
NM_022489.4(INF2):c.1755G>A (p.Ala585=) rs375573206 0.00013
NM_022489.4(INF2):c.744C>T (p.Phe248=) rs372799744 0.00012
NM_022489.4(INF2):c.1770C>T (p.Pro590=) rs549506051 0.00011
NM_022489.4(INF2):c.2053-16G>A rs371712402 0.00011
NM_022489.4(INF2):c.2239+16C>T rs370364755 0.00011
NM_022489.4(INF2):c.2367G>A (p.Thr789=) rs368194536 0.00011
NM_022489.4(INF2):c.2766C>T (p.Arg922=) rs201044782 0.00011
NM_022489.4(INF2):c.3209G>A (p.Arg1070Gln) rs374424323 0.00011
NM_022489.4(INF2):c.844-6G>A rs370399987 0.00011
NM_022489.4(INF2):c.1458C>T (p.Phe486=) rs1420347614 0.00010
NM_022489.4(INF2):c.3040+11C>T rs374390500 0.00010
NM_022489.4(INF2):c.474C>T (p.His158=) rs141172921 0.00010
NM_022489.4(INF2):c.1640G>A (p.Gly547Asp) rs376451593 0.00009
NM_022489.4(INF2):c.1806C>T (p.Ile602=) rs760506368 0.00009
NM_022489.4(INF2):c.2622G>A (p.Ser874=) rs374311535 0.00009
NM_022489.4(INF2):c.354C>T (p.Ile118=) rs771038193 0.00009
NM_022489.4(INF2):c.798C>G (p.Val266=) rs375005967 0.00009
NM_022489.4(INF2):c.668-12G>A rs367924307 0.00008
NM_022489.4(INF2):c.1377G>A (p.Pro459=) rs776870726 0.00007
NM_022489.4(INF2):c.1588G>A (p.Val530Met) rs369984449 0.00007
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln) rs759989953 0.00006
NM_022489.4(INF2):c.2755C>G (p.Leu919Val) rs377145979 0.00006
NM_022489.4(INF2):c.2879-10C>T rs534732317 0.00006
NM_022489.4(INF2):c.3591G>A (p.Ala1197=) rs765090867 0.00006
NM_022489.4(INF2):c.1485G>A (p.Pro495=) rs780642540 0.00005
NM_022489.4(INF2):c.1950-3C>A rs777132952 0.00005
NM_022489.4(INF2):c.2879-9G>A rs373139405 0.00005
NM_022489.4(INF2):c.638C>T (p.Ala213Val) rs746572452 0.00005
NM_022489.4(INF2):c.1183G>A (p.Glu395Lys) rs374769850 0.00004
NM_022489.4(INF2):c.1293T>C (p.Pro431=) rs758725838 0.00004
NM_022489.4(INF2):c.1725C>T (p.Asn575=) rs368235032 0.00004
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln) rs372333024 0.00004
NM_022489.4(INF2):c.2101G>A (p.Ala701Thr) rs772557416 0.00004
NM_022489.4(INF2):c.2184C>T (p.Ala728=) rs564499884 0.00004
NM_022489.4(INF2):c.2240-5T>C rs765264633 0.00004
NM_022489.4(INF2):c.2418+3G>A rs748896420 0.00004
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp) rs780428043 0.00004
NM_022489.4(INF2):c.3461A>T (p.Asp1154Val) rs753263522 0.00004
NM_022489.4(INF2):c.3727A>G (p.Lys1243Glu) rs1026924897 0.00004
NM_022489.4(INF2):c.510G>A (p.Thr170=) rs750711173 0.00004
NM_022489.4(INF2):c.1949+3G>A rs747818846 0.00003
NM_022489.4(INF2):c.2155G>A (p.Glu719Lys) rs775500020 0.00003
NM_022489.4(INF2):c.2418+19G>A rs770701500 0.00003
NM_022489.4(INF2):c.2555G>A (p.Arg852Gln) rs372129830 0.00003
NM_022489.4(INF2):c.279C>T (p.Ser93=) rs199769315 0.00003
NM_022489.4(INF2):c.2804C>T (p.Ala935Val) rs781494318 0.00003
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg) rs747569209 0.00003
NM_022489.4(INF2):c.1208A>G (p.Glu403Gly) rs1356183663 0.00002
NM_022489.4(INF2):c.1811G>A (p.Arg604Gln) rs752971046 0.00002
NM_022489.4(INF2):c.1965C>T (p.Val655=) rs752090814 0.00002
NM_022489.4(INF2):c.1979G>A (p.Arg660Gln) rs756754311 0.00002
NM_022489.4(INF2):c.2498T>C (p.Leu833Pro) rs575569437 0.00002
NM_022489.4(INF2):c.255G>T (p.Ser85=) rs369037445 0.00002
NM_022489.4(INF2):c.2572G>A (p.Val858Met) rs201292830 0.00002
NM_022489.4(INF2):c.2802G>A (p.Ala934=) rs768008674 0.00002
NM_022489.4(INF2):c.2891C>G (p.Pro964Arg) rs748286029 0.00002
NM_022489.4(INF2):c.2898G>T (p.Lys966Asn) rs201180682 0.00002
NM_022489.4(INF2):c.372C>T (p.Tyr124=) rs368077298 0.00002
NM_022489.4(INF2):c.1067C>T (p.Ala356Val) rs375622503 0.00001
NM_022489.4(INF2):c.1115C>T (p.Ser372Phe) rs770882784 0.00001
NM_022489.4(INF2):c.1189G>A (p.Val397Met) rs771775245 0.00001
NM_022489.4(INF2):c.1299C>T (p.Ser433=) rs1431857911 0.00001
NM_022489.4(INF2):c.1447T>G (p.Ser483Ala) rs1218562289 0.00001
NM_022489.4(INF2):c.1503C>T (p.Pro501=) rs1057520913 0.00001
NM_022489.4(INF2):c.1792G>A (p.Asp598Asn) rs368948089 0.00001
NM_022489.4(INF2):c.1994C>T (p.Thr665Ile) rs1279137766 0.00001
NM_022489.4(INF2):c.2103C>T (p.Ala701=) rs369998116 0.00001
NM_022489.4(INF2):c.2553G>A (p.Glu851=) rs368901958 0.00001
NM_022489.4(INF2):c.2775+12C>T rs200236783 0.00001
NM_022489.4(INF2):c.2843A>C (p.Glu948Ala) rs1473555311 0.00001
NM_022489.4(INF2):c.2863G>C (p.Glu955Gln) rs1440140886 0.00001
NM_022489.4(INF2):c.2869G>A (p.Gly957Arg) rs984879135 0.00001
NM_022489.4(INF2):c.3054C>T (p.Asn1018=) rs983208436 0.00001
NM_022489.4(INF2):c.3115A>G (p.Thr1039Ala) rs1316234873 0.00001
NM_022489.4(INF2):c.3126C>T (p.Ser1042=) rs1035033414 0.00001
NM_022489.4(INF2):c.3237T>C (p.Tyr1079=) rs771664996 0.00001
NM_022489.4(INF2):c.3373G>A (p.Gly1125Arg) rs775116734 0.00001
NM_022489.4(INF2):c.3418G>A (p.Val1140Ile) rs199640596 0.00001
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala) rs778879482 0.00001
NM_022489.4(INF2):c.3625A>G (p.Arg1209Gly) rs989477091 0.00001
NM_022489.4(INF2):c.3637C>T (p.Arg1213Trp) rs200823300 0.00001
NM_022489.4(INF2):c.409G>A (p.Val137Met) rs200713451 0.00001
NM_022489.4(INF2):c.489C>T (p.Asp163=) rs769080446 0.00001
NM_022489.4(INF2):c.509C>T (p.Thr170Met) rs767698763 0.00001
NM_022489.4(INF2):c.579C>T (p.Tyr193=) rs986330062 0.00001
NM_022489.4(INF2):c.624C>T (p.Pro208=) rs750610272 0.00001
NM_022489.4(INF2):c.641G>A (p.Arg214His) rs267606879 0.00001
NM_022489.4(INF2):c.654G>T (p.Arg218=) rs745354738 0.00001
NM_022489.4(INF2):c.667G>A (p.Gly223Arg) rs1209201341 0.00001
NM_022489.4(INF2):c.717C>T (p.Ala239=) rs750808868 0.00001
NM_022489.4(INF2):c.765C>T (p.Asp255=) rs758423191 0.00001
NM_022489.4(INF2):c.799G>A (p.Asp267Asn) rs772599038 0.00001
NM_022489.4(INF2):c.839A>G (p.His280Arg) rs759115381 0.00001
NM_022489.4(INF2):c.986-9C>G rs761206810 0.00001
NM_022489.4(INF2):c.1126A>T (p.Thr376Ser) rs376942822
NM_022489.4(INF2):c.1226C>T (p.Ser409Leu) rs1486781241
NM_022489.4(INF2):c.1262CACCCC[1] (p.Pro423_Pro428del) rs573567814
NM_022489.4(INF2):c.1262CACCCC[5] (p.Pro427_Pro428dup) rs573567814
NM_022489.4(INF2):c.1280C>T (p.Pro427Leu) rs1889838927
NM_022489.4(INF2):c.1308G>T (p.Glu436Asp) rs1566781633
NM_022489.4(INF2):c.1310C>T (p.Pro437Leu) rs746697423
NM_022489.4(INF2):c.1376_1387del (p.Pro459_Pro462del) rs1443005224
NM_022489.4(INF2):c.1421CTC[1] (p.Pro475del) rs1325744353
NM_022489.4(INF2):c.1466C>T (p.Pro489Leu) rs1438965620
NM_022489.4(INF2):c.1493G>T (p.Gly498Val) rs2140669360
NM_022489.4(INF2):c.1571G>C (p.Cys524Ser) rs2140669651
NM_022489.4(INF2):c.1582C>G (p.Pro528Ala) rs181694819
NM_022489.4(INF2):c.1735+1G>A rs2140670271
NM_022489.4(INF2):c.1950-10C>A rs199987321
NM_022489.4(INF2):c.1950-20C>T rs370726873
NM_022489.4(INF2):c.2100C>A (p.Ser700Arg) rs377281840
NM_022489.4(INF2):c.217G>A (p.Gly73Ser) rs1566777560
NM_022489.4(INF2):c.2310+12del rs752651194
NM_022489.4(INF2):c.2625C>G (p.Ala875=) rs377398103
NM_022489.4(INF2):c.2726C>A (p.Thr909Lys) rs201336550
NM_022489.4(INF2):c.2749C>T (p.Arg917Trp) rs778308700
NM_022489.4(INF2):c.2788C>G (p.Arg930Gly) rs764687744
NM_022489.4(INF2):c.2846C>T (p.Ala949Val) rs912951002
NM_022489.4(INF2):c.3122C>G (p.Ala1041Gly) rs770095888
NM_022489.4(INF2):c.3207A>C (p.Pro1069=) rs1128840
NM_022489.4(INF2):c.3207A>G (p.Pro1069=) rs1128840
NM_022489.4(INF2):c.3257T>C (p.Leu1086Pro) rs368869709
NM_022489.4(INF2):c.3342C>G (p.Leu1114=) rs777623201
NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu) rs767075044
NM_022489.4(INF2):c.3614G>A (p.Gly1205Asp) rs956685612
NM_022489.4(INF2):c.3643_3653del (p.Ser1215fs) rs762985148
NM_022489.4(INF2):c.3694+12_3694+15del rs766461452
NM_022489.4(INF2):c.3729_3732del (p.Lys1243fs) rs1566787039
NM_022489.4(INF2):c.392-13_392-9dup rs775575983
NM_022489.4(INF2):c.494T>C (p.Leu165Pro) rs1595165937
NM_022489.4(INF2):c.550G>A (p.Glu184Lys) rs1566778676
NM_022489.4(INF2):c.652C>T (p.Arg218Trp) rs267606878
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_022489.4(INF2):c.685G>A (p.Val229Ile) rs752058170
NM_022489.4(INF2):c.760G>A (p.Glu254Lys) rs1595169407
NM_022489.4(INF2):c.994T>G (p.Cys332Gly) rs1399811407

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