ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease type 4 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 139
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001370298.3(FGD4):c.*3920del rs144034303 0.09005
NM_024577.4(SH3TC2):c.*21472A>G rs59731646 0.03434
NM_006096.4(NDRG1):c.*1622T>G rs7825439 0.02986
NM_006096.4(NDRG1):c.*264C>G rs73711834 0.02269
NM_000530.8(MPZ):c.684C>T (p.Ser228=) rs34307129 0.01960
NM_024577.4(SH3TC2):c.*7810T>A rs57517567 0.01532
NM_001370298.3(FGD4):c.1954-8T>C rs115061722 0.01466
NM_181882.3(PRX):c.731C>T (p.Ala244Val) rs118071705 0.01410
NM_006096.4(NDRG1):c.*653T>C rs147301529 0.01388
NM_016156.6(MTMR2):c.1634A>G (p.Asn545Ser) rs558018 0.01295
NM_000530.8(MPZ):c.*568C>G rs60731755 0.01265
NM_024577.4(SH3TC2):c.*4279C>G rs74578025 0.01256
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_030962.4(SBF2):c.4533A>G (p.Thr1511=) rs79251068 0.01066
NM_024577.4(SH3TC2):c.*8533A>G rs139372772 0.00891
NM_024577.4(SH3TC2):c.*12807G>A rs150317192 0.00846
NM_000530.8(MPZ):c.*195G>T rs150182811 0.00828
NM_024577.4(SH3TC2):c.*16947C>T rs142551288 0.00770
NM_024577.4(SH3TC2):c.*4052T>C rs147125913 0.00707
NM_000530.8(MPZ):c.*1048A>T rs71639057 0.00663
NM_024577.4(SH3TC2):c.*15489G>A rs115194965 0.00652
NM_024577.4(SH3TC2):c.*6470T>C rs185164450 0.00616
NM_024577.4(SH3TC2):c.*16395G>T rs116508083 0.00567
NM_001370298.3(FGD4):c.1971C>T (p.Ile657=) rs61748364 0.00526
NM_024577.4(SH3TC2):c.*6600T>C rs115541211 0.00464
NM_024577.4(SH3TC2):c.*20512C>A rs76577532 0.00463
NM_001370298.3(FGD4):c.*3367G>T rs188648275 0.00457
NM_024577.4(SH3TC2):c.*16169G>A rs191600511 0.00417
NM_001370298.3(FGD4):c.*3676A>G rs189489067 0.00409
NM_016156.6(MTMR2):c.*1684A>C rs79576160 0.00401
NM_016156.6(MTMR2):c.570+11T>C rs182582445 0.00390
NM_024577.4(SH3TC2):c.*8277G>A rs147532508 0.00387
NM_024577.4(SH3TC2):c.*3061A>G rs138823547 0.00372
NM_001370298.3(FGD4):c.*2103A>G rs55963204 0.00370
NM_024577.4(SH3TC2):c.*21786G>A rs6890482 0.00357
NM_024577.4(SH3TC2):c.*6301C>T rs188143654 0.00337
NM_024577.4(SH3TC2):c.*18606T>G rs182775401 0.00336
NM_024577.4(SH3TC2):c.*12550A>G rs137953180 0.00330
NM_016156.6(MTMR2):c.*837G>A rs532069328 0.00323
NM_024577.4(SH3TC2):c.*3079G>A rs185297430 0.00322
NM_024577.4(SH3TC2):c.*6047T>A rs139490756 0.00322
NM_024577.4(SH3TC2):c.*7918C>T rs148732819 0.00322
NM_181882.3(PRX):c.-236G>A rs552436076 0.00317
NM_024577.4(SH3TC2):c.*13204A>G rs141603977 0.00315
NM_024577.4(SH3TC2):c.*5536T>G rs146756049 0.00315
NM_024577.4(SH3TC2):c.*16784C>T rs144720540 0.00314
NM_024577.4(SH3TC2):c.*1750C>T rs146276637 0.00314
NM_024577.4(SH3TC2):c.*5947C>G rs143516557 0.00314
NM_024577.4(SH3TC2):c.*13230C>T rs138600983 0.00313
NM_024577.4(SH3TC2):c.*20142A>G rs189978591 0.00313
NM_024577.4(SH3TC2):c.*22212G>A rs149300520 0.00313
NM_024577.4(SH3TC2):c.*11010A>G rs114735628 0.00312
NM_001370298.3(FGD4):c.*4497G>A rs367545740 0.00303
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765 0.00297
NM_024577.4(SH3TC2):c.*4298C>T rs145849837 0.00296
NM_024577.4(SH3TC2):c.*13352G>A rs192178726 0.00295
NM_014845.6(FIG4):c.173A>G (p.Tyr58Cys) rs145337669 0.00275
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=) rs138411915 0.00267
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser) rs141330687 0.00267
NM_016156.6(MTMR2):c.*2187A>G rs141738388 0.00241
NM_001370298.3(FGD4):c.1296C>T (p.Phe432=) rs151083690 0.00230
NM_016156.6(MTMR2):c.1488C>T (p.Thr496=) rs112327353 0.00216
NM_030962.4(SBF2):c.*112G>A rs144513995 0.00201
NM_001370298.3(FGD4):c.*167G>A rs138847108 0.00176
NM_001370298.3(FGD4):c.*4028A>G rs75608969 0.00175
NM_001370298.3(FGD4):c.*4585T>A rs140048835 0.00175
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) rs143032801 0.00173
NM_030962.4(SBF2):c.3036C>T (p.Thr1012=) rs111967328 0.00167
NM_024577.4(SH3TC2):c.*22357T>C rs191754280 0.00158
NM_030962.4(SBF2):c.2337C>T (p.Ser779=) rs140730386 0.00144
NM_181882.3(PRX):c.*144C>T rs189487790 0.00143
NM_181882.3(PRX):c.3947C>T (p.Ala1316Val) rs142762689 0.00138
NM_024577.4(SH3TC2):c.*13645C>T rs180704051 0.00133
NM_024577.4(SH3TC2):c.*797A>G rs140821223 0.00133
NM_024577.4(SH3TC2):c.*2081T>G rs543206033 0.00127
NM_024577.4(SH3TC2):c.*18476T>C rs185251230 0.00125
NM_001370298.3(FGD4):c.*2638A>G rs193167910 0.00121
NM_024577.4(SH3TC2):c.*2987C>T rs565331463 0.00106
NM_024577.4(SH3TC2):c.*2269G>T rs575693285 0.00103
NM_024577.4(SH3TC2):c.*9361C>T rs573872364 0.00096
NM_024577.4(SH3TC2):c.*19002A>G rs546701780 0.00091
NM_024577.4(SH3TC2):c.*711A>C rs567593663 0.00079
NM_024577.4(SH3TC2):c.*16378C>A rs144423228 0.00077
NM_000530.8(MPZ):c.504G>A (p.Val168=) rs145592910 0.00074
NM_024577.4(SH3TC2):c.*4713G>A rs191742061 0.00074
NM_016156.6(MTMR2):c.1805C>G (p.Ala602Gly) rs76784113 0.00069
NM_024577.4(SH3TC2):c.*11427G>A rs535822101 0.00067
NM_024577.4(SH3TC2):c.*6993T>C rs563203537 0.00057
NM_024577.4(SH3TC2):c.*1765G>C rs144178710 0.00052
NM_024577.4(SH3TC2):c.*9953C>T rs535186520 0.00046
NM_001370298.3(FGD4):c.*4831C>T rs145433607 0.00044
NM_024577.4(SH3TC2):c.*7939C>A rs144288040 0.00044
NM_024577.4(SH3TC2):c.*6350G>A rs184940808 0.00041
NM_024577.4(SH3TC2):c.*6820T>C rs60176324 0.00041
NM_024577.4(SH3TC2):c.*837G>A rs565462353 0.00033
NM_000530.8(MPZ):c.*743C>T rs140992541 0.00031
NM_016156.6(MTMR2):c.*1089C>G rs147982779 0.00031
NM_024577.4(SH3TC2):c.*21728T>C rs142485824 0.00030
NM_024577.4(SH3TC2):c.*12509T>C rs550901114 0.00028
NM_001370298.3(FGD4):c.*5244G>A rs186014657 0.00027
NM_006096.4(NDRG1):c.*1473G>A rs187466317 0.00026
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=) rs117860293 0.00021
NM_181882.3(PRX):c.1624C>T (p.Arg542Trp) rs201337455 0.00018
NM_024577.4(SH3TC2):c.*12189C>T rs192729911 0.00017
NM_030962.4(SBF2):c.4128G>A (p.Ala1376=) rs191964053 0.00017
NM_030962.4(SBF2):c.*1091G>A rs182391972 0.00013
NM_024577.4(SH3TC2):c.*10875T>C rs184560843 0.00010
NM_024577.4(SH3TC2):c.188G>A (p.Arg63Lys) rs747938069 0.00010
NM_181882.3(PRX):c.1836C>T (p.Ala612=) rs574899855 0.00010
NM_030962.4(SBF2):c.5231+14C>T rs371184526 0.00008
NM_024577.4(SH3TC2):c.*4446G>C rs186152591 0.00007
NM_014845.6(FIG4):c.658A>G (p.Ile220Val) rs565096937 0.00006
NM_000530.8(MPZ):c.637G>C (p.Gly213Arg) rs202176679 0.00005
NM_000530.8(MPZ):c.77C>T (p.Pro26Leu) rs530923760 0.00003
NM_006096.4(NDRG1):c.*377G>A rs377385607 0.00003
NM_181882.3(PRX):c.2775C>T (p.Val925=) rs201792838 0.00003
NM_181882.3(PRX):c.493C>T (p.Arg165Cys) rs555499679 0.00003
NM_016156.6(MTMR2):c.1862G>A (p.Arg621Gln) rs371925152 0.00002
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp) rs537049075 0.00002
NM_016156.6(MTMR2):c.240A>C (p.Pro80=) rs201920176 0.00001
NM_024577.4(SH3TC2):c.*12637A>G rs536941130 0.00001
NM_024577.4(SH3TC2):c.*2341A>G rs531168193 0.00001
NM_024577.4(SH3TC2):c.*6302T>A rs545169695 0.00001
NM_001370298.3(FGD4):c.*4014C>A rs187562428
NM_001370298.3(FGD4):c.167-62037C>A rs79370524
NM_001370298.3(FGD4):c.2122C>A (p.Pro708Thr) rs144693221
NM_024577.4(SH3TC2):c.*12108_*12110del rs35182601
NM_024577.4(SH3TC2):c.*14188C>T rs532583447
NM_024577.4(SH3TC2):c.*16856CA[22] rs71957589
NM_024577.4(SH3TC2):c.*20099T>C rs73795728
NM_024577.4(SH3TC2):c.*20564A>T rs150905092
NM_024577.4(SH3TC2):c.*21474AAAC[2] rs146796490
NM_024577.4(SH3TC2):c.*22035G>A rs544954149
NM_024577.4(SH3TC2):c.*22553dup rs55932017
NM_024577.4(SH3TC2):c.*5020C>T rs371723580
NM_024577.4(SH3TC2):c.*858_*861del rs5872107
NM_024577.4(SH3TC2):c.*8622del rs562125931
NM_030962.4(SBF2):c.2611-35AATC[4] rs202029370

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.