ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
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HGVS dbSNP
NM_024577.3(SH3TC2):c.*10875T>C rs184560843
NM_024577.3(SH3TC2):c.*11010A>G rs114735628
NM_024577.3(SH3TC2):c.*12509T>C rs550901114
NM_024577.3(SH3TC2):c.*12637A>G rs536941130
NM_024577.3(SH3TC2):c.*12807G>A rs150317192
NM_024577.3(SH3TC2):c.*13230C>T rs138600983
NM_024577.3(SH3TC2):c.*13352G>A rs192178726
NM_024577.3(SH3TC2):c.*15489G>A rs115194965
NM_024577.3(SH3TC2):c.*16169G>A rs191600511
NM_024577.3(SH3TC2):c.*16378C>A rs144423228
NM_024577.3(SH3TC2):c.*16784C>T rs144720540
NM_024577.3(SH3TC2):c.*16947C>T rs142551288
NM_024577.3(SH3TC2):c.*1750C>T rs146276637
NM_024577.3(SH3TC2):c.*18476T>C rs185251230
NM_024577.3(SH3TC2):c.*18606T>G rs182775401
NM_024577.3(SH3TC2):c.*19002A>G rs546701780
NM_024577.3(SH3TC2):c.*20142A>G rs189978591
NM_024577.3(SH3TC2):c.*20564A>T rs150905092
NM_024577.3(SH3TC2):c.*2081T>G rs543206033
NM_024577.3(SH3TC2):c.*21472A>G rs59731646
NM_024577.3(SH3TC2):c.*21728T>C rs142485824
NM_024577.3(SH3TC2):c.*21786G>A rs6890482
NM_024577.3(SH3TC2):c.*22035G>A rs544954149
NM_024577.3(SH3TC2):c.*22212G>A rs149300520
NM_024577.3(SH3TC2):c.*22357T>C rs191754280
NM_024577.3(SH3TC2):c.*2341A>G rs531168193
NM_024577.3(SH3TC2):c.*2987C>T rs565331463
NM_024577.3(SH3TC2):c.*3061A>G rs138823547
NM_024577.3(SH3TC2):c.*3079G>A rs185297430
NM_024577.3(SH3TC2):c.*4279C>G rs74578025
NM_024577.3(SH3TC2):c.*4298C>T rs145849837
NM_024577.3(SH3TC2):c.*4446G>C rs186152591
NM_024577.3(SH3TC2):c.*4713G>A rs191742061
NM_024577.3(SH3TC2):c.*5020C>T rs371723580
NM_024577.3(SH3TC2):c.*6047T>A rs139490756
NM_024577.3(SH3TC2):c.*6301C>T rs188143654
NM_024577.3(SH3TC2):c.*6302T>A rs545169695
NM_024577.3(SH3TC2):c.*6350G>A rs184940808
NM_024577.3(SH3TC2):c.*6470T>C rs185164450
NM_024577.3(SH3TC2):c.*6820T>C rs60176324
NM_024577.3(SH3TC2):c.*6993T>C rs563203537
NM_024577.3(SH3TC2):c.*711A>C rs567593663
NM_024577.3(SH3TC2):c.*7939C>A rs144288040
NM_024577.3(SH3TC2):c.*8277G>A rs147532508
NM_024577.3(SH3TC2):c.*837G>A rs565462353
NM_024577.3(SH3TC2):c.*9361C>T rs573872364
NM_024577.3(SH3TC2):c.*9953C>T rs535186520
NM_024577.3(SH3TC2):c.1842C>T (p.Asp614=) rs138411915
NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His) rs143032801
NM_024577.3(SH3TC2):c.188G>A (p.Arg63Lys) rs747938069
NM_024577.3(SH3TC2):c.1942C>T (p.Arg648Trp) rs537049075
NM_024577.3(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765
NM_024577.4(SH3TC2):c.*11427G>A
NM_024577.4(SH3TC2):c.*12189C>T
NM_024577.4(SH3TC2):c.*12550A>G
NM_024577.4(SH3TC2):c.*13204A>G
NM_024577.4(SH3TC2):c.*13645C>T
NM_024577.4(SH3TC2):c.*14188C>T
NM_024577.4(SH3TC2):c.*16395G>T
NM_024577.4(SH3TC2):c.*1765G>C
NM_024577.4(SH3TC2):c.*20099T>C
NM_024577.4(SH3TC2):c.*20512C>A
NM_024577.4(SH3TC2):c.*2269G>T
NM_024577.4(SH3TC2):c.*4052T>C
NM_024577.4(SH3TC2):c.*5536T>G
NM_024577.4(SH3TC2):c.*5947C>G
NM_024577.4(SH3TC2):c.*6600T>C
NM_024577.4(SH3TC2):c.*7810T>A
NM_024577.4(SH3TC2):c.*7918C>T
NM_024577.4(SH3TC2):c.*797A>G
NM_024577.4(SH3TC2):c.*8533A>G
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=) rs117860293

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