ClinVar Miner

List of variants reported as likely benign for Charcot-Marie-Tooth disease type 4C

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.*21472A>G rs59731646 0.03434
NM_024577.4(SH3TC2):c.*7810T>A rs57517567 0.01532
NM_024577.4(SH3TC2):c.*4279C>G rs74578025 0.01256
NM_024577.4(SH3TC2):c.*8533A>G rs139372772 0.00891
NM_024577.4(SH3TC2):c.*12807G>A rs150317192 0.00846
NM_024577.4(SH3TC2):c.*16947C>T rs142551288 0.00770
NM_024577.4(SH3TC2):c.*4052T>C rs147125913 0.00707
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_024577.4(SH3TC2):c.*6600T>C rs115541211 0.00464
NM_024577.4(SH3TC2):c.*20512C>A rs76577532 0.00463
NM_024577.4(SH3TC2):c.*16169G>A rs191600511 0.00417
NM_024577.4(SH3TC2):c.*8277G>A rs147532508 0.00387
NM_024577.4(SH3TC2):c.*3061A>G rs138823547 0.00372
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_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_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_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_024577.4(SH3TC2):c.1842C>T (p.Asp614=) rs138411915 0.00267
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) rs143032801 0.00173
NM_024577.4(SH3TC2):c.*22357T>C rs191754280 0.00158
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_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_024577.4(SH3TC2):c.*4713G>A rs191742061 0.00074
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_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_024577.4(SH3TC2):c.*21728T>C rs142485824 0.00030
NM_024577.4(SH3TC2):c.*12509T>C rs550901114 0.00028
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=) rs117860293 0.00021
NM_024577.4(SH3TC2):c.*12189C>T rs192729911 0.00017
NM_024577.4(SH3TC2):c.*10875T>C rs184560843 0.00010
NM_024577.4(SH3TC2):c.188G>A (p.Arg63Lys) rs747938069 0.00010
NM_024577.4(SH3TC2):c.*4446G>C rs186152591 0.00007
NM_024577.4(SH3TC2):c.1942C>T (p.Arg648Trp) rs537049075 0.00002
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_024577.4(SH3TC2):c.*14188C>T rs532583447
NM_024577.4(SH3TC2):c.*20099T>C rs73795728
NM_024577.4(SH3TC2):c.*20564A>T rs150905092
NM_024577.4(SH3TC2):c.*22035G>A rs544954149
NM_024577.4(SH3TC2):c.*5020C>T rs371723580

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.