ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
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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.2087A>G (p.His696Arg) rs17109261 0.00521
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

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