ClinVar Miner

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

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Total variants: 142
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HGVS dbSNP
NC_000014.8:g.(?_105176405)_(105185180_?)dup
NM_022489.3(INF2):c.148T>G (p.Tyr50Asp) rs1555373261
NM_022489.3(INF2):c.150C>A (p.Tyr50Ter) rs1555373267
NM_022489.3(INF2):c.1736-6C>T rs371991103
NM_022489.3(INF2):c.1755G>A (p.Ala585=) rs375573206
NM_022489.3(INF2):c.1770C>T (p.Pro590=) rs549506051
NM_022489.3(INF2):c.1771G>A (p.Asp591Asn) rs369421697
NM_022489.3(INF2):c.1771G>C (p.Asp591His) rs369421697
NM_022489.3(INF2):c.1811G>A (p.Arg604Gln)
NM_022489.3(INF2):c.1821C>A (p.Ser607=) rs751949801
NM_022489.3(INF2):c.186C>T (p.Gly62=) rs1555373276
NM_022489.3(INF2):c.1888-8T>G
NM_022489.3(INF2):c.1950-10C>T rs199987321
NM_022489.3(INF2):c.1950-3C>A
NM_022489.3(INF2):c.1956C>T (p.Asn652=) rs767304781
NM_022489.3(INF2):c.1957G>A (p.Glu653Lys) rs368576387
NM_022489.3(INF2):c.1962G>C (p.Glu654Asp) rs1378876029
NM_022489.3(INF2):c.1966G>A (p.Ala656Thr)
NM_022489.3(INF2):c.2040C>T (p.Pro680=) rs373736329
NM_022489.3(INF2):c.2049C>T (p.His683=) rs760045317
NM_022489.3(INF2):c.2052+3A>G rs1382855956
NM_022489.3(INF2):c.2053A>G (p.Ile685Val) rs199526439
NM_022489.3(INF2):c.2087C>G (p.Ala696Gly)
NM_022489.3(INF2):c.2138+9G>A rs201065953
NM_022489.3(INF2):c.2145G>A (p.Gln715=) rs1228218526
NM_022489.3(INF2):c.2155G>A (p.Glu719Lys) rs775500020
NM_022489.3(INF2):c.2181G>A (p.Ala727=) rs370830904
NM_022489.3(INF2):c.2184C>T (p.Ala728=) rs564499884
NM_022489.3(INF2):c.2188G>A (p.Val730Met) rs373199310
NM_022489.3(INF2):c.218G>T (p.Gly73Val) rs918089359
NM_022489.3(INF2):c.2202G>A (p.Val734=) rs376146089
NM_022489.3(INF2):c.221T>G (p.Leu74Arg)
NM_022489.3(INF2):c.2236G>A (p.Glu746Lys) rs569586169
NM_022489.3(INF2):c.2240-9C>T rs759780715
NM_022489.3(INF2):c.2322C>T (p.Thr774=) rs59751492
NM_022489.3(INF2):c.2418+3G>A
NM_022489.3(INF2):c.2419-8C>A rs372720253
NM_022489.3(INF2):c.2433C>T (p.Ser811=) rs140010249
NM_022489.3(INF2):c.2440G>A (p.Asp814Asn) rs373532334
NM_022489.3(INF2):c.2458C>T (p.Arg820Trp) rs79327775
NM_022489.3(INF2):c.2479C>A (p.Gln827Lys) rs4983379
NM_022489.3(INF2):c.2489G>T (p.Gly830Val)
NM_022489.3(INF2):c.2509C>T (p.Arg837Cys) rs201534539
NM_022489.3(INF2):c.2550C>T (p.Thr850=) rs771112980
NM_022489.3(INF2):c.2571C>T (p.Ser857=) rs62640005
NM_022489.3(INF2):c.261C>T (p.Arg87=) rs761111655
NM_022489.3(INF2):c.2630G>A (p.Arg877Gln) rs142678449
NM_022489.3(INF2):c.2641G>A (p.Glu881Lys) rs1314746427
NM_022489.3(INF2):c.264C>T (p.Gly88=) rs201587219
NM_022489.3(INF2):c.2659G>A (p.Glu887Lys) rs748529803
NM_022489.3(INF2):c.265G>A (p.Val89Ile) rs765566674
NM_022489.3(INF2):c.2672G>A (p.Arg891Gln) rs777498088
NM_022489.3(INF2):c.2683G>A (p.Asp895Asn) rs776314008
NM_022489.3(INF2):c.2755C>G (p.Leu919Val) rs377145979
NM_022489.3(INF2):c.2766C>T (p.Arg922=) rs201044782
NM_022489.3(INF2):c.2767_2773delGCCCTGA (p.Ala923Argfs)
NM_022489.3(INF2):c.2801C>T (p.Ala934Val)
NM_022489.3(INF2):c.2804C>T (p.Ala935Val)
NM_022489.3(INF2):c.2847G>A (p.Ala949=) rs754546219
NM_022489.3(INF2):c.2848C>T (p.Arg950Trp) rs199873407
NM_022489.3(INF2):c.2858G>A (p.Arg953Gln) rs1385146569
NM_022489.3(INF2):c.2885A>C (p.Lys962Thr) rs376067427
NM_022489.3(INF2):c.2977C>G (p.Arg993Gly) rs935688609
NM_022489.3(INF2):c.2984A>G (p.Asp995Gly) rs748234626
NM_022489.3(INF2):c.2987C>T (p.Thr996Ile) rs377414980
NM_022489.3(INF2):c.2989G>A (p.Asp997Asn) rs370719592
NM_022489.3(INF2):c.2999G>A (p.Ser1000Asn) rs148541427
NM_022489.3(INF2):c.3032C>G (p.Thr1011Arg) rs551015347
NM_022489.3(INF2):c.3041-4C>T rs945997134
NM_022489.3(INF2):c.3059C>T (p.Ala1020Val) rs368372551
NM_022489.3(INF2):c.3069C>T (p.Pro1023=) rs75382114
NM_022489.3(INF2):c.3078C>T (p.Ser1026=) rs377023270
NM_022489.3(INF2):c.3082C>T (p.Arg1028Cys)
NM_022489.3(INF2):c.3083G>A (p.Arg1028His)
NM_022489.3(INF2):c.3102C>T (p.Pro1034=) rs375864368
NM_022489.3(INF2):c.3103G>A (p.Gly1035Ser) rs368995122
NM_022489.3(INF2):c.3108T>C (p.Leu1036=) rs186075307
NM_022489.3(INF2):c.3126C>T (p.Ser1042=) rs1035033414
NM_022489.3(INF2):c.3133C>T (p.Arg1045Trp) rs780428043
NM_022489.3(INF2):c.3134G>A (p.Arg1045Gln) rs200369827
NM_022489.3(INF2):c.3153C>T (p.Asp1051=) rs117457867
NM_022489.3(INF2):c.3194A>C (p.Glu1065Ala)
NM_022489.3(INF2):c.3206C>T (p.Pro1069Leu) rs376139171
NM_022489.3(INF2):c.3221G>A (p.Arg1074Lys) rs201445955
NM_022489.3(INF2):c.3224G>A (p.Arg1075His) rs370169829
NM_022489.3(INF2):c.3244G>T (p.Ala1082Ser) rs143540449
NM_022489.3(INF2):c.3260C>T (p.Thr1087Ile)
NM_022489.3(INF2):c.3404C>T (p.Thr1135Met) rs3803311
NM_022489.3(INF2):c.3412C>G (p.Leu1138Val) rs759925463
NM_022489.3(INF2):c.3474C>T (p.Ser1158=) rs1555375620
NM_022489.3(INF2):c.3476G>A (p.Arg1159His) rs200591522
NM_022489.3(INF2):c.3478G>A (p.Gly1160Ser) rs9672065
NM_022489.3(INF2):c.3519C>T (p.Asp1173=) rs767075044
NM_022489.3(INF2):c.3535A>G (p.Thr1179Ala) rs778879482
NM_022489.3(INF2):c.3537G>A (p.Thr1179=) rs758215424
NM_022489.3(INF2):c.3550G>A (p.Ala1184Thr) rs374684004
NM_022489.3(INF2):c.3563C>T (p.Ser1188Phe) rs201715539
NM_022489.3(INF2):c.3579C>G (p.Phe1193Leu) rs1555375657
NM_022489.3(INF2):c.3591G>A (p.Ala1197=) rs765090867
NM_022489.3(INF2):c.3591G>T (p.Ala1197=) rs765090867
NM_022489.3(INF2):c.3598G>C (p.Asp1200His) rs764338863
NM_022489.3(INF2):c.3606G>A (p.Ser1202=) rs756383109
NM_022489.3(INF2):c.3612G>A (p.Ser1204=) rs150811244
NM_022489.3(INF2):c.3625A>G (p.Arg1209Gly) rs989477091
NM_022489.3(INF2):c.3637C>T (p.Arg1213Trp) rs200823300
NM_022489.3(INF2):c.3638G>A (p.Arg1213Gln) rs199801767
NM_022489.3(INF2):c.363C>T (p.Asn121=) rs1174416960
NM_022489.3(INF2):c.3648G>T (p.Lys1216Asn) rs139196357
NM_022489.3(INF2):c.3662G>C (p.Arg1221Pro)
NM_022489.3(INF2):c.366G>A (p.Gln122=) rs770186824
NM_022489.3(INF2):c.3703C>T (p.Pro1235Ser) rs201091360
NM_022489.3(INF2):c.3704_3705delCT (p.Pro1235Argfs)
NM_022489.3(INF2):c.3714T>A (p.Asp1238Glu)
NM_022489.3(INF2):c.3740_3741delTG (p.Val1247Aspfs) rs753327806
NM_022489.3(INF2):c.3744C>T (p.Ile1248=) rs765432583
NM_022489.3(INF2):c.3747G>A (p.Gln1249=) rs149939482
NM_022489.3(INF2):c.37G>A (p.Ala13Thr) rs201383094
NM_022489.3(INF2):c.391+6C>T rs75115369
NM_022489.3(INF2):c.397G>A (p.Asp133Asn) rs774135330
NM_022489.3(INF2):c.408C>T (p.Asn136=) rs767069639
NM_022489.3(INF2):c.409G>A (p.Val137Met)
NM_022489.3(INF2):c.410T>G (p.Val137Gly) rs760611306
NM_022489.3(INF2):c.42G>A (p.Leu14=) rs62638758
NM_022489.3(INF2):c.440T>C (p.Leu147Pro) rs1555373588
NM_022489.3(INF2):c.490_498delGCCCTGGAC (p.Ala164_Asp166del) rs1555373599
NM_022489.3(INF2):c.507+7G>A rs201568246
NM_022489.3(INF2):c.519C>T (p.Ser173=) rs780247558
NM_022489.3(INF2):c.554T>C (p.Leu185Pro) rs1555373625
NM_022489.3(INF2):c.558C>T (p.Ser186=) rs150714865
NM_022489.3(INF2):c.598G>A (p.Val200Met)
NM_022489.3(INF2):c.610G>A (p.Val204Ile)
NM_022489.3(INF2):c.651G>A (p.Leu217=) rs780516674
NM_022489.3(INF2):c.67T>A (p.Ser23Thr) rs746964937
NM_022489.3(INF2):c.733C>G (p.Leu245Val) rs765986755
NM_022489.3(INF2):c.798C>G (p.Val266=) rs375005967
NM_022489.3(INF2):c.799G>A (p.Asp267Asn)
NM_022489.3(INF2):c.844-6G>A rs370399987
NM_022489.3(INF2):c.850T>C (p.Cys284Arg)
NM_022489.3(INF2):c.879G>A (p.Ser293=) rs184709736
NM_022489.3(INF2):c.916C>T (p.Arg306Cys)
NM_022489.3(INF2):c.967G>A (p.Val323Met) rs761806103
NM_022489.3(INF2):c.985+10C>T rs755849718

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