ClinVar Miner

List of variants in gene INF2 studied for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 348
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HGVS dbSNP
INF2, 9-BP DEL, NT490
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.*10C>T rs142710295
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.170T>G (p.Leu57Arg) 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.203T>C (p.Phe68Ser) rs1595163801
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.205_216del (p.Leu69_Ser72del) rs1595163808
NM_022489.4(INF2):c.206T>C (p.Leu69Pro) rs1595163820
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.226CTG[2] (p.Leu78del)
NM_022489.4(INF2):c.230T>C (p.Leu77Pro) rs1595163851
NM_022489.4(INF2):c.230T>G (p.Leu77Arg) 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.2406C>G (p.His802Gln)
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.310T>C (p.Cys104Arg) rs387907034
NM_022489.4(INF2):c.3119C>T (p.Thr1040Ile)
NM_022489.4(INF2):c.311G>A (p.Cys104Tyr) rs387907035
NM_022489.4(INF2):c.311G>T (p.Cys104Phe) rs387907035
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.314T>A (p.Val105Glu) rs1555373363
NM_022489.4(INF2):c.314T>G (p.Val105Gly) rs1555373363
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.317G>C (p.Arg106Pro) rs1595164070
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.323T>A (p.Val108Asp) rs1595164081
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.341G>A (p.Gly114Asp) rs1595164091
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.383T>C (p.Leu128Pro) rs387907037
NM_022489.4(INF2):c.391+6C>T rs75115369
NM_022489.4(INF2):c.395T>C (p.Leu132Pro) rs387907038
NM_022489.4(INF2):c.395T>G (p.Leu132Arg) rs387907038
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.494T>C (p.Leu165Pro) rs1595165937
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.550G>A (p.Glu184Lys) rs1566778676
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.640C>T (p.Arg214Cys) rs912928648
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.658G>A (p.Glu220Lys) rs530391015
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)

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