ClinVar Miner

List of variants studied for Charcot-Marie-Tooth disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (172):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 179
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HGVS dbSNP gnomAD frequency
NM_001136472.2(LITAF):c.274A>G (p.Ile92Val) rs4280262 0.15945
NM_002972.4(SBF1):c.4020C>T (p.Pro1340=) rs79468232 0.05085
NM_001005373.4(LRSAM1):c.548C>T (p.Ser183Leu) rs75690855 0.03450
NM_030962.4(SBF2):c.3794-20C>T rs116966215 0.02037
NM_002972.4(SBF1):c.3006C>T (p.Asp1002=) rs77064034 0.01961
NM_016156.6(MTMR2):c.80+13C>T rs139510268 0.01848
NM_001005373.4(LRSAM1):c.1830+6C>T rs75171318 0.01846
NM_030962.4(SBF2):c.3111-6T>C rs16907139 0.01676
NM_001370298.3(FGD4):c.1926T>C (p.Ser642=) rs60803891 0.01632
NM_030962.4(SBF2):c.2850C>T (p.Ile950=) rs74642088 0.01620
NM_016156.6(MTMR2):c.1233G>A (p.Thr411=) rs113897932 0.01619
NM_030962.4(SBF2):c.513+17G>C rs73410819 0.01551
NM_001370298.3(FGD4):c.1954-8T>C rs115061722 0.01466
NM_001142386.3(PDK3):c.1228A>C (p.Lys410Gln) rs141326782 0.01437
NM_002972.4(SBF1):c.55+9C>T rs184600817 0.01375
NM_006096.4(NDRG1):c.892-5C>T rs2233346 0.01290
NM_006096.4(NDRG1):c.306C>T (p.Gly102=) rs2233322 0.01251
NM_006096.4(NDRG1):c.507G>A (p.Ala169=) rs2233331 0.01225
NM_015271.5(TRIM2):c.870C>T (p.Asn290=) rs35333794 0.01210
NM_002972.4(SBF1):c.5539A>G (p.Thr1847Ala) rs192771726 0.01139
NM_002972.4(SBF1):c.2127+4C>T rs151027707 0.01090
NM_002972.4(SBF1):c.4368+17G>A rs116526390 0.01026
NM_002972.4(SBF1):c.3818G>A (p.Gly1273Asp) rs147879775 0.01020
NM_001136472.2(LITAF):c.234G>A (p.Thr78=) rs9282774 0.00987
NM_002972.4(SBF1):c.1570A>T (p.Met524Leu) rs149528827 0.00850
NM_006096.4(NDRG1):c.199A>G (p.Met67Val) rs2233319 0.00829
NM_001005373.4(LRSAM1):c.2157C>T (p.Ile719=) rs34768188 0.00793
NM_001370298.3(FGD4):c.1247+10G>T rs41276676 0.00792
NM_002972.4(SBF1):c.3827-4T>C rs114603288 0.00786
NM_002972.4(SBF1):c.56-5C>T rs79658113 0.00784
NM_002972.4(SBF1):c.4267-15C>T rs115969873 0.00701
NM_002972.4(SBF1):c.2712G>C (p.Leu904=) rs114880473 0.00694
NM_030962.4(SBF2):c.1173A>G (p.Ala391=) rs79470805 0.00687
NM_002972.4(SBF1):c.3339C>T (p.Ser1113=) rs149160974 0.00612
NM_002972.4(SBF1):c.296A>C (p.Glu99Ala) rs148021361 0.00573
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) rs61748364 0.00526
NM_006096.4(NDRG1):c.-18-2_-18-1del rs371927413 0.00490
NM_006096.4(NDRG1):c.879G>A (p.Pro293=) rs2233340 0.00458
NM_002972.4(SBF1):c.1947T>A (p.Pro649=) rs180800708 0.00425
NM_016156.6(MTMR2):c.570+11T>C rs182582445 0.00390
NM_021629.4(GNB4):c.958G>A (p.Val320Ile) rs61750380 0.00362
NM_002972.4(SBF1):c.4813-18C>T rs41281541 0.00348
NM_004637.6(RAB7A):c.495G>A (p.Ala165=) rs146566121 0.00341
NM_002972.4(SBF1):c.5604T>C (p.Val1868=) rs141053122 0.00332
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_002972.4(SBF1):c.1668T>C (p.His556=) rs139208738 0.00257
NM_002972.4(SBF1):c.898-18G>A rs369814596 0.00252
NM_002972.4(SBF1):c.4833C>T (p.Asn1611=) rs199573140 0.00247
NM_002972.4(SBF1):c.3904+5C>G rs115032856 0.00233
NM_002972.4(SBF1):c.4927C>A (p.Pro1643Thr) rs202049257 0.00229
NM_002972.4(SBF1):c.1968+15G>A rs41281539 0.00224
NM_002972.4(SBF1):c.868G>A (p.Ala290Thr) rs201776298 0.00222
NM_001370298.3(FGD4):c.647C>T (p.Thr216Ile) rs145115430 0.00213
NM_004637.6(RAB7A):c.423C>G (p.Ala141=) rs61758751 0.00210
NM_002972.4(SBF1):c.2393A>G (p.Asn798Ser) rs199705951 0.00206
NM_002972.4(SBF1):c.5625C>T (p.Asp1875=) rs146489206 0.00205
NM_002972.4(SBF1):c.2079C>T (p.His693=) rs199672732 0.00188
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638 0.00169
NM_001370298.3(FGD4):c.1777C>A (p.Pro593Thr) rs138160928 0.00168
NM_001370298.3(FGD4):c.666A>T (p.Ala222=) rs139357821 0.00161
NM_015271.5(TRIM2):c.122G>A (p.Arg41His) rs146705057 0.00161
NM_021629.4(GNB4):c.186T>C (p.His62=) rs149798652 0.00155
NM_002972.4(SBF1):c.3666G>A (p.Lys1222=) rs373529561 0.00144
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr) rs145871479 0.00140
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127 0.00133
NM_002972.4(SBF1):c.5463C>T (p.Tyr1821=) rs144773853 0.00131
NM_002972.4(SBF1):c.2785G>A (p.Val929Ile) rs370463792 0.00125
NM_002972.4(SBF1):c.2255C>T (p.Thr752Met) rs188976869 0.00122
NM_006096.4(NDRG1):c.789G>A (p.Ser263=) rs61755062 0.00102
NM_002972.4(SBF1):c.3765C>T (p.Tyr1255=) rs201985055 0.00100
NM_002972.4(SBF1):c.3922C>T (p.Arg1308Trp) rs201399007 0.00091
NM_002972.4(SBF1):c.3940A>G (p.Ser1314Gly) rs200718883 0.00088
NM_002972.4(SBF1):c.898-4G>A rs377428323 0.00088
NM_002972.4(SBF1):c.4965G>C (p.Gln1655His) rs147869659 0.00084
NM_002972.4(SBF1):c.55G>C (p.Gly19Arg) rs765666942 0.00075
NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113 0.00069
NM_002972.4(SBF1):c.2034G>A (p.Thr678=) rs139798340 0.00066
NM_001005373.4(LRSAM1):c.1974T>C (p.Ser658=) rs140336379 0.00065
NM_001005373.4(LRSAM1):c.406+15G>T rs201808404 0.00064
NM_001136472.2(LITAF):c.377+13C>G rs200357430 0.00058
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp) rs202156491 0.00058
NM_015271.5(TRIM2):c.2055G>A (p.Lys685=) rs138490175 0.00054
NM_030962.4(SBF2):c.3290C>A (p.Thr1097Asn) rs141894081 0.00054
NM_002972.4(SBF1):c.3905-9C>T rs574807761 0.00053
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_002972.4(SBF1):c.549+10G>A rs187441948 0.00043
NM_002972.4(SBF1):c.1432-12G>A rs377210668 0.00040
NM_002972.4(SBF1):c.2569+4C>T rs200379541 0.00039
NM_002972.4(SBF1):c.142-3C>T rs191369963 0.00038
NM_002972.4(SBF1):c.5471G>A (p.Arg1824His) rs202149945 0.00036
NM_002972.4(SBF1):c.5022C>T (p.Asp1674=) rs570393243 0.00035
NM_003680.4(YARS1):c.1008G>A (p.Leu336=) rs140232925 0.00034
NM_002972.4(SBF1):c.4517C>T (p.Thr1506Ile) rs374199797 0.00031
NM_002972.4(SBF1):c.4639C>T (p.Arg1547Trp) rs370182117 0.00027
NM_001005373.4(LRSAM1):c.2139C>T (p.Ile713=) rs373990000 0.00024
NM_002972.4(SBF1):c.2697C>A (p.Gly899=) rs374888082 0.00024
NM_030962.4(SBF2):c.3433A>G (p.Arg1145Gly) rs145647154 0.00023
NM_002972.4(SBF1):c.2967+8G>A rs374708421 0.00021
NM_030962.4(SBF2):c.3831C>G (p.Ile1277Met) rs139522696 0.00020
NM_006096.4(NDRG1):c.1027C>T (p.Arg343Cys) rs146613168 0.00019
NM_030962.4(SBF2):c.1967G>C (p.Cys656Ser) rs138120231 0.00019
NM_002972.4(SBF1):c.5595G>A (p.Thr1865=) rs371139013 0.00017
NM_030962.4(SBF2):c.2319G>A (p.Ala773=) rs201547070 0.00016
NM_002972.4(SBF1):c.2195G>A (p.Arg732His) rs374201600 0.00014
NM_002972.4(SBF1):c.4521C>T (p.Pro1507=) rs534889802 0.00014
NM_030962.4(SBF2):c.2197C>G (p.Gln733Glu) rs145199888 0.00014
NM_002972.4(SBF1):c.4724C>T (p.Pro1575Leu) rs199779197 0.00012
NM_001005373.4(LRSAM1):c.2110C>T (p.Arg704Cys) rs150984897 0.00011
NM_002972.4(SBF1):c.1164C>T (p.Val388=) rs376600058 0.00011
NM_002972.4(SBF1):c.3251C>T (p.Pro1084Leu) rs749516637 0.00011
NM_002972.4(SBF1):c.4047A>T (p.Arg1349=) rs894127251 0.00011
NM_016156.6(MTMR2):c.1741A>G (p.Ile581Val) rs149476960 0.00010
NM_001136472.2(LITAF):c.268C>T (p.Arg90Cys) rs375665454 0.00008
NM_016156.6(MTMR2):c.894A>T (p.Glu298Asp) rs200898934 0.00007
NM_030962.4(SBF2):c.2436C>T (p.Ala812=) rs374225152 0.00007
NM_030962.4(SBF2):c.3574A>G (p.Thr1192Ala) rs761285334 0.00007
NM_001370298.3(FGD4):c.792A>G (p.Ile264Met) rs774466701 0.00006
NM_001370298.3(FGD4):c.980T>A (p.Leu327Gln) rs144980336 0.00006
NM_002972.4(SBF1):c.3399C>T (p.Leu1133=) rs367869582 0.00005
NM_001005373.4(LRSAM1):c.619+14G>A rs770398029 0.00004
NM_002972.4(SBF1):c.219C>T (p.Ile73=) rs750211528 0.00003
NM_002972.4(SBF1):c.2737G>A (p.Ala913Thr) rs755038470 0.00003
NM_003680.4(YARS1):c.298G>A (p.Val100Met) rs766704849 0.00003
NM_001005373.4(LRSAM1):c.904-4del rs757987823 0.00002
NM_002972.4(SBF1):c.1917C>T (p.Asp639=) rs750516504 0.00002
NM_002972.4(SBF1):c.651G>A (p.Gln217=) rs1292863100 0.00002
NM_016156.6(MTMR2):c.356G>A (p.Arg119Gln) rs759086106 0.00002
NM_021629.4(GNB4):c.432G>A (p.Gly144=) rs759607911 0.00002
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly) rs779696968 0.00001
NM_000166.6(GJB1):c.83T>A (p.Ile28Asn) rs768834663 0.00001
NM_001005373.4(LRSAM1):c.1870C>G (p.Arg624Gly) rs375938990 0.00001
NM_001370298.3(FGD4):c.1404+5T>C rs373712001 0.00001
NM_002972.4(SBF1):c.1069A>G (p.Thr357Ala) rs746439204 0.00001
NM_002972.4(SBF1):c.3462G>T (p.Pro1154=) rs371815025 0.00001
NM_006096.4(NDRG1):c.583C>T (p.Leu195Phe) rs1295024326 0.00001
NM_006096.4(NDRG1):c.591G>A (p.Gly197=) rs377257830 0.00001
NM_006096.4(NDRG1):c.699-16C>G rs567104964 0.00001
NM_015271.5(TRIM2):c.1518A>G (p.Lys506=) rs773419235 0.00001
NM_015271.5(TRIM2):c.677G>A (p.Ser226Asn) rs143032564 0.00001
NM_016156.6(MTMR2):c.146C>G (p.Ser49Cys) rs1170327910 0.00001
NM_016156.6(MTMR2):c.213A>G (p.Ala71=) rs1402885565 0.00001
NM_030962.4(SBF2):c.1893C>T (p.Ala631=) rs760154688 0.00001
NM_030962.4(SBF2):c.4416C>T (p.Phe1472=) rs1347990916 0.00001
NM_030962.4(SBF2):c.4459C>T (p.Pro1487Ser) rs1590103742 0.00001
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.283G>A (p.Val95Met) rs104894821
NM_000166.6(GJB1):c.287C>T (p.Ala96Val) rs11551260
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000166.6(GJB1):c.77C>T (p.Ser26Leu) rs587777876
NM_001005373.4(LRSAM1):c.1298C>T (p.Ser433Leu)
NM_001005373.4(LRSAM1):c.22C>G (p.Arg8Gly)
NM_001005373.4(LRSAM1):c.72+10del rs1554753226
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136472.2(LITAF):c.429C>T (p.Asp143=)
NM_001370298.3(FGD4):c.1543+17dup rs548627916
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) rs144693221
NM_001370298.3(FGD4):c.504-20C>G rs1592293275
NM_001376.5(DYNC1H1):c.1826T>C (p.Ile609Thr) rs2047933165
NM_002972.4(SBF1):c.1056G>A (p.Pro352=) rs145862488
NM_002972.4(SBF1):c.2663G>A (p.Arg888His) rs201519518
NM_002972.4(SBF1):c.2799G>A (p.Thr933=) rs774121119
NM_002972.4(SBF1):c.3873GGCCTC[3] (p.1292AS[3]) rs761546537
NM_002972.4(SBF1):c.5008C>T (p.Arg1670Trp) rs1158592167
NM_002972.4(SBF1):c.5507C>G (p.Ala1836Gly) rs373534319
NM_002972.4(SBF1):c.622C>A (p.Arg208Ser) rs777596406
NM_006096.4(NDRG1):c.1053_1082del (p.340TRSRSHTSEG[2]) rs751274009
NM_015271.5(TRIM2):c.1554G>A (p.Gly518=)
NM_015271.5(TRIM2):c.1903A>C (p.Ile635Leu) rs142179342
NM_016156.6(MTMR2):c.94C>G (p.His32Asp) rs1591025020
NM_021629.4(GNB4):c.162C>T (p.His54=)
NM_021629.4(GNB4):c.58-14dup rs112500963
NM_021629.4(GNB4):c.745_747delinsCCC (p.Thr249Pro)
NM_030962.4(SBF2):c.1863T>C (p.Asp621=)
NM_030962.4(SBF2):c.2611-35AATC[6] rs202029370
NM_030962.4(SBF2):c.2894A>G (p.Asn965Ser) rs1008248276
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_030962.4(SBF2):c.5017GAA[1] (p.Glu1674del) rs572571832

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