ClinVar Miner

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

Included ClinVar conditions (134):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 175
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HGVS dbSNP
INF2, 9-BP DEL, NT490
NC_000014.8:g.(?_105167683)_(105185180_?)dup
NC_000014.8:g.(?_105167693)_(105170300_?)del
NC_000014.8:g.(?_105176405)_(105185180_?)dup
NM_022489.4(INF2):c.*10C>T rs142710295
NM_022489.4(INF2):c.1067C>T (p.Ala356Val)
NM_022489.4(INF2):c.1186C>G (p.Pro396Ala)
NM_022489.4(INF2):c.1276C>T (p.Pro426Ser)
NM_022489.4(INF2):c.1304C>T (p.Ala435Val)
NM_022489.4(INF2):c.1310C>T (p.Pro437Leu)
NM_022489.4(INF2):c.1336dup (p.Leu446fs)
NM_022489.4(INF2):c.1360C>T (p.Leu454Phe) rs545495465
NM_022489.4(INF2):c.1409C>A (p.Ala470Asp)
NM_022489.4(INF2):c.1423C>G (p.Pro475Ala)
NM_022489.4(INF2):c.1485G>A (p.Pro495=)
NM_022489.4(INF2):c.148T>G (p.Tyr50Asp) rs1555373261
NM_022489.4(INF2):c.150C>A (p.Tyr50Ter) rs1555373267
NM_022489.4(INF2):c.1587dup (p.Val530fs)
NM_022489.4(INF2):c.1593G>A (p.Ala531=)
NM_022489.4(INF2):c.1625T>C (p.Val542Ala)
NM_022489.4(INF2):c.170T>C (p.Leu57Pro)
NM_022489.4(INF2):c.170T>G (p.Leu57Arg)
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.1811G>A (p.Arg604Gln) rs752971046
NM_022489.4(INF2):c.186C>T (p.Gly62=) rs1555373276
NM_022489.4(INF2):c.1888-8T>G rs889481678
NM_022489.4(INF2):c.1907A>G (p.Lys636Arg)
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)
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.1994C>T (p.Thr665Ile)
NM_022489.4(INF2):c.203T>C (p.Phe68Ser)
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)
NM_022489.4(INF2):c.206T>C (p.Leu69Pro)
NM_022489.4(INF2):c.2084G>A (p.Arg695Gln)
NM_022489.4(INF2):c.2087C>G (p.Ala696Gly) rs769120676
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.2188G>A (p.Val730Met) rs373199310
NM_022489.4(INF2):c.218G>T (p.Gly73Val) rs918089359
NM_022489.4(INF2):c.221T>G (p.Leu74Arg) rs1566777566
NM_022489.4(INF2):c.2225T>G (p.Leu742Arg)
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)
NM_022489.4(INF2):c.230T>C (p.Leu77Pro)
NM_022489.4(INF2):c.230T>G (p.Leu77Arg)
NM_022489.4(INF2):c.2322C>T (p.Thr774=) rs59751492
NM_022489.4(INF2):c.2418+3G>A rs748896420
NM_022489.4(INF2):c.2419-8C>A rs372720253
NM_022489.4(INF2):c.2440G>A (p.Asp814Asn) rs373532334
NM_022489.4(INF2):c.2489G>C (p.Gly830Ala)
NM_022489.4(INF2):c.2489G>T (p.Gly830Val) rs377340315
NM_022489.4(INF2):c.2510G>A (p.Arg837His)
NM_022489.4(INF2):c.2572G>A (p.Val858Met)
NM_022489.4(INF2):c.2574G>A (p.Val858=)
NM_022489.4(INF2):c.2596A>G (p.Thr866Ala)
NM_022489.4(INF2):c.2603G>A (p.Arg868His)
NM_022489.4(INF2):c.2641G>A (p.Glu881Lys) rs1314746427
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)
NM_022489.4(INF2):c.2672G>A (p.Arg891Gln) rs777498088
NM_022489.4(INF2):c.2683G>A (p.Asp895Asn) rs776314008
NM_022489.4(INF2):c.2726C>T (p.Thr909Met)
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.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)
NM_022489.4(INF2):c.2846C>G (p.Ala949Gly)
NM_022489.4(INF2):c.2858G>A (p.Arg953Gln) rs1385146569
NM_022489.4(INF2):c.2885A>C (p.Lys962Thr) rs376067427
NM_022489.4(INF2):c.2960G>A (p.Arg987Gln)
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)
NM_022489.4(INF2):c.3032C>G (p.Thr1011Arg) rs551015347
NM_022489.4(INF2):c.3041-4C>T rs945997134
NM_022489.4(INF2):c.3059C>T (p.Ala1020Val) rs368372551
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)
NM_022489.4(INF2):c.310T>C (p.Cys104Arg) rs387907034
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)
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.314T>A (p.Val105Glu) rs1555373363
NM_022489.4(INF2):c.314T>G (p.Val105Gly)
NM_022489.4(INF2):c.3153C>T (p.Asp1051=) rs117457867
NM_022489.4(INF2):c.3157G>A (p.Val1053Met)
NM_022489.4(INF2):c.317G>C (p.Arg106Pro)
NM_022489.4(INF2):c.3194A>C (p.Glu1065Ala) rs202244190
NM_022489.4(INF2):c.3206C>T (p.Pro1069Leu) rs376139171
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)
NM_022489.4(INF2):c.3250G>A (p.Asp1084Asn)
NM_022489.4(INF2):c.3257T>A (p.Leu1086Gln)
NM_022489.4(INF2):c.3260C>T (p.Thr1087Ile) rs371946522
NM_022489.4(INF2):c.3328G>C (p.Ala1110Pro)
NM_022489.4(INF2):c.3412C>G (p.Leu1138Val) rs759925463
NM_022489.4(INF2):c.341G>A (p.Gly114Asp)
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.3519_3524CGAGGA[1] (p.1171_1172DE[2])
NM_022489.4(INF2):c.3535A>G (p.Thr1179Ala) rs778879482
NM_022489.4(INF2):c.3550G>A (p.Ala1184Thr) rs374684004
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.3590C>T (p.Ala1197Val)
NM_022489.4(INF2):c.3591G>T (p.Ala1197=) rs765090867
NM_022489.4(INF2):c.3598G>C (p.Asp1200His) rs764338863
NM_022489.4(INF2):c.3605C>T (p.Ser1202Leu)
NM_022489.4(INF2):c.3606G>A (p.Ser1202=) rs756383109
NM_022489.4(INF2):c.3625A>G (p.Arg1209Gly) rs989477091
NM_022489.4(INF2):c.3631C>T (p.Arg1211Trp)
NM_022489.4(INF2):c.3637C>T (p.Arg1213Trp) rs200823300
NM_022489.4(INF2):c.363C>T (p.Asn121=) rs1174416960
NM_022489.4(INF2):c.3648G>A (p.Lys1216=)
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.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.3734_3735TG[3] (p.Val1247fs) rs753327806
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)
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)
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)
NM_022489.4(INF2):c.507+6C>T
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.583G>A (p.Val195Ile)
NM_022489.4(INF2):c.598G>A (p.Val200Met) rs377272716
NM_022489.4(INF2):c.610G>A (p.Val204Ile) rs1049200069
NM_022489.4(INF2):c.625G>A (p.Glu209Lys)
NM_022489.4(INF2):c.634C>T (p.Arg212Cys)
NM_022489.4(INF2):c.638C>T (p.Ala213Val)
NM_022489.4(INF2):c.640C>T (p.Arg214Cys)
NM_022489.4(INF2):c.651G>A (p.Leu217=) rs780516674
NM_022489.4(INF2):c.658G>A (p.Glu220Lys) rs530391015
NM_022489.4(INF2):c.733C>G (p.Leu245Val) rs765986755
NM_022489.4(INF2):c.787T>G (p.Ser263Ala)
NM_022489.4(INF2):c.792C>T (p.Gly264=)
NM_022489.4(INF2):c.799G>A (p.Asp267Asn) rs772599038
NM_022489.4(INF2):c.850T>C (p.Cys284Arg) rs374935145
NM_022489.4(INF2):c.916C>T (p.Arg306Cys) rs542700662
NM_022489.4(INF2):c.949A>G (p.Ser317Gly)
NM_022489.4(INF2):c.967G>A (p.Val323Met) rs761806103
NM_022489.4(INF2):c.985+10C>T rs755849718

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