ClinVar Miner

List of variants in gene INF2 studied for Focal segmental glomerulosclerosis 5; Charcot-Marie-Tooth disease, dominant intermediate E

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 324
Download table as spreadsheet
HGVS dbSNP
NC_000014.8:g.(?_105167683)_(105185180_?)dup
NC_000014.8:g.(?_105176405)_(105185180_?)dup
NC_000014.9:g.(?_104701356)_(104703963_?)del
NM_022489.4(INF2):c.1049C>T (p.Pro350Leu) rs146529868
NM_022489.4(INF2):c.1053C>A (p.Ser351Arg)
NM_022489.4(INF2):c.1067C>T (p.Ala356Val) rs375622503
NM_022489.4(INF2):c.1078G>A (p.Val360Ile) rs114820975
NM_022489.4(INF2):c.1105A>G (p.Arg369Gly)
NM_022489.4(INF2):c.1118C>T (p.Pro373Leu)
NM_022489.4(INF2):c.1139A>G (p.Lys380Arg)
NM_022489.4(INF2):c.1144A>G (p.Ser382Gly) rs201077878
NM_022489.4(INF2):c.1147G>A (p.Val383Met) rs780689756
NM_022489.4(INF2):c.1183G>A (p.Glu395Lys) rs374769850
NM_022489.4(INF2):c.1186C>G (p.Pro396Ala) rs1416561484
NM_022489.4(INF2):c.1189G>A (p.Val397Met) rs771775245
NM_022489.4(INF2):c.118C>A (p.Arg40=) rs761238349
NM_022489.4(INF2):c.1208A>G (p.Glu403Gly)
NM_022489.4(INF2):c.1210A>G (p.Ser404Gly)
NM_022489.4(INF2):c.1264C>T (p.Pro422Ser)
NM_022489.4(INF2):c.1268C>T (p.Pro423Leu)
NM_022489.4(INF2):c.1276C>T (p.Pro426Ser) rs766635668
NM_022489.4(INF2):c.1279C>A (p.Pro427Thr)
NM_022489.4(INF2):c.1281_1286del (p.Pro428_Leu429del) rs751555478
NM_022489.4(INF2):c.1289_1339del (p.Leu430_Leu446del)
NM_022489.4(INF2):c.1304C>T (p.Ala435Val) rs777455096
NM_022489.4(INF2):c.1305C>T (p.Ala435=) rs1396253816
NM_022489.4(INF2):c.1310C>T (p.Pro437Leu) rs746697423
NM_022489.4(INF2):c.1336dup (p.Leu446fs) rs1278804782
NM_022489.4(INF2):c.1348G>C (p.Gly450Arg)
NM_022489.4(INF2):c.1360C>T (p.Leu454Phe) rs545495465
NM_022489.4(INF2):c.1372C>T (p.Pro458Ser) rs760986113
NM_022489.4(INF2):c.1376_1387del (p.Pro459_Pro462del)
NM_022489.4(INF2):c.137C>T (p.Ser46Phe)
NM_022489.4(INF2):c.1405A>G (p.Met469Val)
NM_022489.4(INF2):c.1409C>A (p.Ala470Asp) rs1166010216
NM_022489.4(INF2):c.1423C>G (p.Pro475Ala) rs1271375014
NM_022489.4(INF2):c.1447T>G (p.Ser483Ala)
NM_022489.4(INF2):c.1451G>A (p.Cys484Tyr) rs201323100
NM_022489.4(INF2):c.1452T>C (p.Cys484=) rs371775604
NM_022489.4(INF2):c.1485G>A (p.Pro495=) rs780642540
NM_022489.4(INF2):c.1488C>T (p.Gly496=)
NM_022489.4(INF2):c.148T>G (p.Tyr50Asp) rs1555373261
NM_022489.4(INF2):c.1499C>T (p.Pro500Leu) rs561201601
NM_022489.4(INF2):c.150C>A (p.Tyr50Ter) rs1555373267
NM_022489.4(INF2):c.1547C>T (p.Pro516Leu) rs111589086
NM_022489.4(INF2):c.1577G>A (p.Cys526Tyr)
NM_022489.4(INF2):c.1582C>G (p.Pro528Ala)
NM_022489.4(INF2):c.1582C>T (p.Pro528Ser) rs181694819
NM_022489.4(INF2):c.1587C>T (p.Pro529=) rs755649066
NM_022489.4(INF2):c.1587dup (p.Val530fs) rs748929807
NM_022489.4(INF2):c.1588G>A (p.Val530Met)
NM_022489.4(INF2):c.1593G>A (p.Ala531=) rs186326868
NM_022489.4(INF2):c.1599C>T (p.Gly533=)
NM_022489.4(INF2):c.1605G>A (p.Glu535=) rs374316478
NM_022489.4(INF2):c.1625T>C (p.Val542Ala) rs1467920811
NM_022489.4(INF2):c.170T>C (p.Leu57Pro) rs1595163736
NM_022489.4(INF2):c.1732C>T (p.Arg578Cys) rs201593594
NM_022489.4(INF2):c.1734T>G (p.Arg578=)
NM_022489.4(INF2):c.1736-6C>T rs371991103
NM_022489.4(INF2):c.1755G>A (p.Ala585=) rs375573206
NM_022489.4(INF2):c.1770C>T (p.Pro590=) rs549506051
NM_022489.4(INF2):c.1771G>A (p.Asp591Asn) rs369421697
NM_022489.4(INF2):c.1771G>C (p.Asp591His) rs369421697
NM_022489.4(INF2):c.1773C>T (p.Asp591=) rs201853087
NM_022489.4(INF2):c.1811G>A (p.Arg604Gln) rs752971046
NM_022489.4(INF2):c.1821C>A (p.Ser607=) rs751949801
NM_022489.4(INF2):c.1864C>G (p.Arg622Gly) rs539256832
NM_022489.4(INF2):c.186C>T (p.Gly62=) rs1555373276
NM_022489.4(INF2):c.1888-8T>G rs889481678
NM_022489.4(INF2):c.188_208del (p.Gly63_Leu69del)
NM_022489.4(INF2):c.18C>T (p.Gly6=) rs1032255653
NM_022489.4(INF2):c.1907A>G (p.Lys636Arg) rs761939643
NM_022489.4(INF2):c.1950-10C>T rs199987321
NM_022489.4(INF2):c.1950-3C>A rs777132952
NM_022489.4(INF2):c.1956C>T (p.Asn652=) rs767304781
NM_022489.4(INF2):c.1957G>A (p.Glu653Lys) rs368576387
NM_022489.4(INF2):c.1959G>C (p.Glu653Asp) rs1047172155
NM_022489.4(INF2):c.1962G>C (p.Glu654Asp) rs1378876029
NM_022489.4(INF2):c.1966G>A (p.Ala656Thr) rs189559257
NM_022489.4(INF2):c.1978C>T (p.Arg660Trp) rs138577569
NM_022489.4(INF2):c.1994C>T (p.Thr665Ile) rs1279137766
NM_022489.4(INF2):c.2040C>T (p.Pro680=) rs373736329
NM_022489.4(INF2):c.2049C>T (p.His683=) rs760045317
NM_022489.4(INF2):c.2052+3A>G rs1382855956
NM_022489.4(INF2):c.2053A>G (p.Ile685Val) rs199526439
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln) rs372333024
NM_022489.4(INF2):c.2087C>G (p.Ala696Gly) rs769120676
NM_022489.4(INF2):c.2100C>A (p.Ser700Arg)
NM_022489.4(INF2):c.2118C>T (p.Leu706=) rs1595173916
NM_022489.4(INF2):c.2138+9G>A rs201065953
NM_022489.4(INF2):c.2145G>A (p.Gln715=) rs1228218526
NM_022489.4(INF2):c.2155G>A (p.Glu719Lys) rs775500020
NM_022489.4(INF2):c.2179G>A (p.Ala727Thr)
NM_022489.4(INF2):c.2180C>T (p.Ala727Val)
NM_022489.4(INF2):c.2181G>A (p.Ala727=) rs370830904
NM_022489.4(INF2):c.2184C>T (p.Ala728=) rs564499884
NM_022489.4(INF2):c.2185G>A (p.Ala729Thr)
NM_022489.4(INF2):c.2188G>A (p.Val730Met) rs373199310
NM_022489.4(INF2):c.218G>T (p.Gly73Val) rs918089359
NM_022489.4(INF2):c.2202G>A (p.Val734=) rs376146089
NM_022489.4(INF2):c.2204G>A (p.Arg735Gln)
NM_022489.4(INF2):c.221T>G (p.Leu74Arg) rs1566777566
NM_022489.4(INF2):c.2225T>G (p.Leu742Arg) rs1595174468
NM_022489.4(INF2):c.2236G>A (p.Glu746Lys) rs569586169
NM_022489.4(INF2):c.2240-9C>T rs759780715
NM_022489.4(INF2):c.2255G>A (p.Arg752His) rs1450593874
NM_022489.4(INF2):c.230T>C (p.Leu77Pro) rs1595163851
NM_022489.4(INF2):c.2315G>C (p.Ser772Thr)
NM_022489.4(INF2):c.2322C>T (p.Thr774=) rs59751492
NM_022489.4(INF2):c.233T>A (p.Leu78Gln)
NM_022489.4(INF2):c.2399T>G (p.Leu800Arg)
NM_022489.4(INF2):c.2410G>A (p.Val804Met)
NM_022489.4(INF2):c.2418+3G>A rs748896420
NM_022489.4(INF2):c.2418+8G>A rs778305724
NM_022489.4(INF2):c.2419-8C>A rs372720253
NM_022489.4(INF2):c.2433C>T (p.Ser811=) rs140010249
NM_022489.4(INF2):c.2440G>A (p.Asp814Asn) rs373532334
NM_022489.4(INF2):c.2458C>T (p.Arg820Trp) rs79327775
NM_022489.4(INF2):c.2459G>A (p.Arg820Gln)
NM_022489.4(INF2):c.246G>A (p.Ala82=) rs377173164
NM_022489.4(INF2):c.2479C>A (p.Gln827Lys) rs4983379
NM_022489.4(INF2):c.2489G>C (p.Gly830Ala) rs377340315
NM_022489.4(INF2):c.2489G>T (p.Gly830Val) rs377340315
NM_022489.4(INF2):c.2498T>C (p.Leu833Pro) rs575569437
NM_022489.4(INF2):c.2509C>T (p.Arg837Cys) rs201534539
NM_022489.4(INF2):c.2510G>A (p.Arg837His) rs374697429
NM_022489.4(INF2):c.251T>C (p.Leu84Pro)
NM_022489.4(INF2):c.2538G>T (p.Lys846Asn)
NM_022489.4(INF2):c.2550C>T (p.Thr850=) rs771112980
NM_022489.4(INF2):c.2556G>A (p.Arg852=) rs763348932
NM_022489.4(INF2):c.2571C>T (p.Ser857=) rs62640005
NM_022489.4(INF2):c.2572G>A (p.Val858Met) rs201292830
NM_022489.4(INF2):c.2574G>A (p.Val858=) rs371768502
NM_022489.4(INF2):c.2578G>A (p.Glu860Lys)
NM_022489.4(INF2):c.2596A>G (p.Thr866Ala) rs753660816
NM_022489.4(INF2):c.2603G>A (p.Arg868His) rs369698920
NM_022489.4(INF2):c.2611-3_2766delinsA
NM_022489.4(INF2):c.2625C>G (p.Ala875=) rs377398103
NM_022489.4(INF2):c.2629C>T (p.Arg877Trp)
NM_022489.4(INF2):c.262G>A (p.Gly88Ser)
NM_022489.4(INF2):c.2630G>A (p.Arg877Gln) rs142678449
NM_022489.4(INF2):c.2641G>A (p.Glu881Lys) rs1314746427
NM_022489.4(INF2):c.264C>T (p.Gly88=) rs201587219
NM_022489.4(INF2):c.2659G>A (p.Glu887Lys) rs748529803
NM_022489.4(INF2):c.265G>A (p.Val89Ile) rs765566674
NM_022489.4(INF2):c.2671C>T (p.Arg891Trp) rs926222455
NM_022489.4(INF2):c.2672G>A (p.Arg891Gln) rs777498088
NM_022489.4(INF2):c.2673G>A (p.Arg891=) rs938468023
NM_022489.4(INF2):c.2682C>T (p.Ala894=) rs770520588
NM_022489.4(INF2):c.2683G>A (p.Asp895Asn) rs776314008
NM_022489.4(INF2):c.2693G>T (p.Cys898Phe)
NM_022489.4(INF2):c.271C>G (p.Arg91Gly)
NM_022489.4(INF2):c.2726C>T (p.Thr909Met) rs201336550
NM_022489.4(INF2):c.2755C>G (p.Leu919Val) rs377145979
NM_022489.4(INF2):c.2766C>T (p.Arg922=) rs201044782
NM_022489.4(INF2):c.2767G>A (p.Ala923Thr)
NM_022489.4(INF2):c.2767_2773del (p.Ala923fs) rs1566785235
NM_022489.4(INF2):c.2801C>T (p.Ala934Val) rs1001885245
NM_022489.4(INF2):c.2804C>T (p.Ala935Val) rs781494318
NM_022489.4(INF2):c.2812G>A (p.Glu938Lys) rs1595178511
NM_022489.4(INF2):c.2841G>C (p.Glu947Asp)
NM_022489.4(INF2):c.2846C>G (p.Ala949Gly) rs912951002
NM_022489.4(INF2):c.2848C>T (p.Arg950Trp) rs199873407
NM_022489.4(INF2):c.2857C>T (p.Arg953Trp) rs942393807
NM_022489.4(INF2):c.2858G>A (p.Arg953Gln) rs1385146569
NM_022489.4(INF2):c.2875C>T (p.Pro959Ser) rs369417066
NM_022489.4(INF2):c.2879-9G>A rs373139405
NM_022489.4(INF2):c.2885A>C (p.Lys962Thr) rs376067427
NM_022489.4(INF2):c.2905G>A (p.Glu969Lys)
NM_022489.4(INF2):c.2923G>T (p.Ala975Ser)
NM_022489.4(INF2):c.2960G>A (p.Arg987Gln) rs757988412
NM_022489.4(INF2):c.2977C>G (p.Arg993Gly) rs935688609
NM_022489.4(INF2):c.2984A>G (p.Asp995Gly) rs748234626
NM_022489.4(INF2):c.2987C>T (p.Thr996Ile) rs377414980
NM_022489.4(INF2):c.2989G>A (p.Asp997Asn) rs370719592
NM_022489.4(INF2):c.2992G>A (p.Gly998Arg) rs747569209
NM_022489.4(INF2):c.2999G>A (p.Ser1000Asn) rs148541427
NM_022489.4(INF2):c.3013A>G (p.Met1005Val)
NM_022489.4(INF2):c.3032C>G (p.Thr1011Arg) rs551015347
NM_022489.4(INF2):c.3041-3C>T
NM_022489.4(INF2):c.3041-4C>T rs945997134
NM_022489.4(INF2):c.3053A>G (p.Asn1018Ser)
NM_022489.4(INF2):c.3059C>T (p.Ala1020Val) rs368372551
NM_022489.4(INF2):c.3069C>T (p.Pro1023=) rs75382114
NM_022489.4(INF2):c.3078C>T (p.Ser1026=) rs377023270
NM_022489.4(INF2):c.3082C>T (p.Arg1028Cys) rs369987125
NM_022489.4(INF2):c.3083G>A (p.Arg1028His) rs1368908308
NM_022489.4(INF2):c.3102C>T (p.Pro1034=) rs375864368
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122
NM_022489.4(INF2):c.3104G>A (p.Gly1035Asp) rs751648279
NM_022489.4(INF2):c.3108T>C (p.Leu1036=) rs186075307
NM_022489.4(INF2):c.3119C>T (p.Thr1040Ile)
NM_022489.4(INF2):c.3126C>T (p.Ser1042=) rs1035033414
NM_022489.4(INF2):c.3127G>A (p.Glu1043Lys) rs958862615
NM_022489.4(INF2):c.312C>G (p.Cys104Trp) rs387907036
NM_022489.4(INF2):c.3133C>T (p.Arg1045Trp) rs780428043
NM_022489.4(INF2):c.3134G>A (p.Arg1045Gln) rs200369827
NM_022489.4(INF2):c.3153C>T (p.Asp1051=) rs117457867
NM_022489.4(INF2):c.3157G>A (p.Val1053Met) rs760721935
NM_022489.4(INF2):c.3170C>G (p.Pro1057Arg)
NM_022489.4(INF2):c.3194A>C (p.Glu1065Ala) rs202244190
NM_022489.4(INF2):c.3205C>T (p.Pro1069Ser)
NM_022489.4(INF2):c.3206C>T (p.Pro1069Leu) rs376139171
NM_022489.4(INF2):c.3206_3207inv (p.Pro1069Leu)
NM_022489.4(INF2):c.3207_3208delinsCT (p.Arg1070Trp)
NM_022489.4(INF2):c.3221G>A (p.Arg1074Lys) rs201445955
NM_022489.4(INF2):c.3224G>A (p.Arg1075His) rs370169829
NM_022489.4(INF2):c.3244G>T (p.Ala1082Ser) rs143540449
NM_022489.4(INF2):c.3250G>A (p.Asp1084Asn) rs557741807
NM_022489.4(INF2):c.3257T>A (p.Leu1086Gln) rs368869709
NM_022489.4(INF2):c.3260C>T (p.Thr1087Ile) rs371946522
NM_022489.4(INF2):c.3328G>C (p.Ala1110Pro) rs1212327132
NM_022489.4(INF2):c.3365C>T (p.Pro1122Leu)
NM_022489.4(INF2):c.3372C>T (p.Ala1124=) rs769591308
NM_022489.4(INF2):c.3404C>T (p.Thr1135Met) rs3803311
NM_022489.4(INF2):c.3412C>G (p.Leu1138Val) rs759925463
NM_022489.4(INF2):c.3439A>G (p.Ser1147Gly)
NM_022489.4(INF2):c.3461A>T (p.Asp1154Val)
NM_022489.4(INF2):c.3467T>C (p.Val1156Ala)
NM_022489.4(INF2):c.3472A>G (p.Ser1158Gly)
NM_022489.4(INF2):c.3474C>T (p.Ser1158=) rs1555375620
NM_022489.4(INF2):c.3476G>A (p.Arg1159His) rs200591522
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065
NM_022489.4(INF2):c.34G>A (p.Ala12Thr)
NM_022489.4(INF2):c.3501C>A (p.Gly1167=) rs776977547
NM_022489.4(INF2):c.3519C>G (p.Asp1173Glu)
NM_022489.4(INF2):c.3519C>T (p.Asp1173=) rs767075044
NM_022489.4(INF2):c.3519_3524CGAGGA[1] (p.1171_1172DE[2]) rs748373029
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala) rs778879482
NM_022489.4(INF2):c.3537G>A (p.Thr1179=) rs758215424
NM_022489.4(INF2):c.354C>T (p.Ile118=) rs771038193
NM_022489.4(INF2):c.3550G>A (p.Ala1184Thr) rs374684004
NM_022489.4(INF2):c.3563C>G (p.Ser1188Cys)
NM_022489.4(INF2):c.3563C>T (p.Ser1188Phe) rs201715539
NM_022489.4(INF2):c.3579C>G (p.Phe1193Leu) rs1555375657
NM_022489.4(INF2):c.3583G>A (p.Glu1195Lys)
NM_022489.4(INF2):c.3585G>A (p.Glu1195=) rs569502255
NM_022489.4(INF2):c.3590C>T (p.Ala1197Val) rs372714774
NM_022489.4(INF2):c.3591G>A (p.Ala1197=) rs765090867
NM_022489.4(INF2):c.3591G>T (p.Ala1197=) rs765090867
NM_022489.4(INF2):c.3598G>A (p.Asp1200Asn)
NM_022489.4(INF2):c.3598G>C (p.Asp1200His) rs764338863
NM_022489.4(INF2):c.3605C>T (p.Ser1202Leu) rs751351877
NM_022489.4(INF2):c.3606G>A (p.Ser1202=) rs756383109
NM_022489.4(INF2):c.3612G>A (p.Ser1204=) rs150811244
NM_022489.4(INF2):c.3625A>G (p.Arg1209Gly) rs989477091
NM_022489.4(INF2):c.3631C>T (p.Arg1211Trp) rs374049468
NM_022489.4(INF2):c.3637C>T (p.Arg1213Trp) rs200823300
NM_022489.4(INF2):c.3638G>A (p.Arg1213Gln) rs199801767
NM_022489.4(INF2):c.363C>T (p.Asn121=) rs1174416960
NM_022489.4(INF2):c.3643_3653del (p.Ser1215fs)
NM_022489.4(INF2):c.3648G>A (p.Lys1216=) rs139196357
NM_022489.4(INF2):c.3648G>T (p.Lys1216Asn) rs139196357
NM_022489.4(INF2):c.3654C>T (p.Thr1218=) rs557462297
NM_022489.4(INF2):c.3662G>A (p.Arg1221Gln)
NM_022489.4(INF2):c.3662G>C (p.Arg1221Pro) rs754128326
NM_022489.4(INF2):c.366G>A (p.Gln122=) rs770186824
NM_022489.4(INF2):c.3673C>T (p.Arg1225Cys)
NM_022489.4(INF2):c.3703C>T (p.Pro1235Ser) rs201091360
NM_022489.4(INF2):c.3704_3705del (p.Pro1235fs) rs763988639
NM_022489.4(INF2):c.3714T>A (p.Asp1238Glu) rs775075672
NM_022489.4(INF2):c.3727A>G (p.Lys1243Glu)
NM_022489.4(INF2):c.3730A>G (p.Lys1244Glu)
NM_022489.4(INF2):c.3734_3735TG[3] (p.Val1247fs) rs753327806
NM_022489.4(INF2):c.3744C>T (p.Ile1248=) rs765432583
NM_022489.4(INF2):c.3746A>T (p.Gln1249Leu)
NM_022489.4(INF2):c.37G>A (p.Ala13Thr) rs201383094
NM_022489.4(INF2):c.391+6C>T rs75115369
NM_022489.4(INF2):c.397G>A (p.Asp133Asn) rs774135330
NM_022489.4(INF2):c.408C>T (p.Asn136=) rs767069639
NM_022489.4(INF2):c.409G>A (p.Val137Met) rs200713451
NM_022489.4(INF2):c.410T>G (p.Val137Gly) rs760611306
NM_022489.4(INF2):c.427G>A (p.Val143Met) rs1237835000
NM_022489.4(INF2):c.42G>A (p.Leu14=) rs62638758
NM_022489.4(INF2):c.440T>C (p.Leu147Pro) rs1555373588
NM_022489.4(INF2):c.490_498del (p.Ala164_Asp166del) rs1555373599
NM_022489.4(INF2):c.507+6C>T rs749868411
NM_022489.4(INF2):c.507+7G>A rs201568246
NM_022489.4(INF2):c.510G>A (p.Thr170=) rs750711173
NM_022489.4(INF2):c.519C>T (p.Ser173=) rs780247558
NM_022489.4(INF2):c.554T>C (p.Leu185Pro) rs1555373625
NM_022489.4(INF2):c.558C>T (p.Ser186=) rs150714865
NM_022489.4(INF2):c.564C>T (p.Ser188=) rs746732992
NM_022489.4(INF2):c.565G>A (p.Asp189Asn)
NM_022489.4(INF2):c.570C>T (p.Asn190=) rs200662352
NM_022489.4(INF2):c.580G>A (p.Val194Met)
NM_022489.4(INF2):c.583G>A (p.Val195Ile) rs1595166165
NM_022489.4(INF2):c.583G>T (p.Val195Phe)
NM_022489.4(INF2):c.585C>T (p.Val195=) rs759408802
NM_022489.4(INF2):c.597C>T (p.Ser199=) rs372269719
NM_022489.4(INF2):c.598G>A (p.Val200Met) rs377272716
NM_022489.4(INF2):c.609C>T (p.Ala203=) rs140017506
NM_022489.4(INF2):c.610G>A (p.Val204Ile) rs1049200069
NM_022489.4(INF2):c.625G>A (p.Glu209Lys) rs1012899025
NM_022489.4(INF2):c.634C>T (p.Arg212Cys) rs748481552
NM_022489.4(INF2):c.638C>T (p.Ala213Val) rs746572452
NM_022489.4(INF2):c.639G>A (p.Ala213=) rs149858291
NM_022489.4(INF2):c.651G>A (p.Leu217=) rs780516674
NM_022489.4(INF2):c.653G>A (p.Arg218Gln) rs267607183
NM_022489.4(INF2):c.67T>A (p.Ser23Thr) rs746964937
NM_022489.4(INF2):c.67T>G (p.Ser23Ala)
NM_022489.4(INF2):c.700C>A (p.Arg234=)
NM_022489.4(INF2):c.733C>G (p.Leu245Val) rs765986755
NM_022489.4(INF2):c.740C>T (p.Ala247Val)
NM_022489.4(INF2):c.744C>T (p.Phe248=) rs372799744
NM_022489.4(INF2):c.758_763del (p.Ala253_Glu254del)
NM_022489.4(INF2):c.782G>A (p.Arg261Gln) rs749543418
NM_022489.4(INF2):c.787T>G (p.Ser263Ala) rs1364540701
NM_022489.4(INF2):c.792C>T (p.Gly264=) rs768718406
NM_022489.4(INF2):c.798C>A (p.Val266=)
NM_022489.4(INF2):c.798C>G (p.Val266=) rs375005967
NM_022489.4(INF2):c.799G>A (p.Asp267Asn) rs772599038
NM_022489.4(INF2):c.844-6G>A rs370399987
NM_022489.4(INF2):c.850T>C (p.Cys284Arg) rs374935145
NM_022489.4(INF2):c.879G>A (p.Ser293=) rs184709736
NM_022489.4(INF2):c.885G>A (p.Leu295=) rs370680236
NM_022489.4(INF2):c.916C>T (p.Arg306Cys) rs542700662
NM_022489.4(INF2):c.942C>T (p.Ala314=) rs774989778
NM_022489.4(INF2):c.945G>A (p.Leu315=) rs1475991845
NM_022489.4(INF2):c.949A>G (p.Ser317Gly) rs762702624
NM_022489.4(INF2):c.967G>A (p.Val323Met) rs761806103
NM_022489.4(INF2):c.985+10C>T rs755849718
NM_022489.4(INF2):c.986-9C>G
NM_022489.4(INF2):c.997A>G (p.Thr333Ala)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.