ClinVar Miner

List of variants reported as uncertain significance 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: 349
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HGVS dbSNP
NC_000005.10:g.149063099G>A
NM_024577.3(SH3TC2):c.*10006A>T rs201998002
NM_024577.3(SH3TC2):c.*10010A>T rs886060145
NM_024577.3(SH3TC2):c.*10018A>T rs866934630
NM_024577.3(SH3TC2):c.*10022A>T rs56245745
NM_024577.3(SH3TC2):c.*10052C>T rs113802539
NM_024577.3(SH3TC2):c.*10060C>A rs886060143
NM_024577.3(SH3TC2):c.*1006C>T rs886060185
NM_024577.3(SH3TC2):c.*10079A>G rs886060142
NM_024577.3(SH3TC2):c.*10083A>G rs886060141
NM_024577.3(SH3TC2):c.*10103A>T rs754724940
NM_024577.3(SH3TC2):c.*10105C>T rs753563756
NM_024577.3(SH3TC2):c.*10132A>G rs886060138
NM_024577.3(SH3TC2):c.*10177T>A rs149759395
NM_024577.3(SH3TC2):c.*10505A>G rs886060137
NM_024577.3(SH3TC2):c.*10546C>T rs186003687
NM_024577.3(SH3TC2):c.*10573T>C rs886060136
NM_024577.3(SH3TC2):c.*10756G>T rs886060135
NM_024577.3(SH3TC2):c.*10863C>T rs181346624
NM_024577.3(SH3TC2):c.*10864G>A rs189701174
NM_024577.3(SH3TC2):c.*10984G>T rs868782614
NM_024577.3(SH3TC2):c.*11054G>C rs886060134
NM_024577.3(SH3TC2):c.*11055T>C rs886060133
NM_024577.3(SH3TC2):c.*11160C>T rs886060132
NM_024577.3(SH3TC2):c.*11506C>T rs886060131
NM_024577.3(SH3TC2):c.*11542G>A rs886060130
NM_024577.3(SH3TC2):c.*11593G>A rs886060129
NM_024577.3(SH3TC2):c.*11621G>A rs886060128
NM_024577.3(SH3TC2):c.*12126C>T rs886060124
NM_024577.3(SH3TC2):c.*12146C>G rs886060123
NM_024577.3(SH3TC2):c.*1254T>C rs752672326
NM_024577.3(SH3TC2):c.*12653C>A rs886060121
NM_024577.3(SH3TC2):c.*12752T>A rs886060120
NM_024577.3(SH3TC2):c.*1310G>A rs886060184
NM_024577.3(SH3TC2):c.*13293T>C rs886060119
NM_024577.3(SH3TC2):c.*13465C>A rs186009343
NM_024577.3(SH3TC2):c.*13598A>G rs141011337
NM_024577.3(SH3TC2):c.*13923T>C rs534282709
NM_024577.3(SH3TC2):c.*14429T>G rs577465518
NM_024577.3(SH3TC2):c.*14628C>T rs886060118
NM_024577.3(SH3TC2):c.*14781C>A rs886060117
NM_024577.3(SH3TC2):c.*14827T>A rs569378409
NM_024577.3(SH3TC2):c.*14985A>G rs886060116
NM_024577.3(SH3TC2):c.*15062G>A rs886060115
NM_024577.3(SH3TC2):c.*15125C>G rs181229340
NM_024577.3(SH3TC2):c.*15235A>G rs145210501
NM_024577.3(SH3TC2):c.*15339G>A rs886060113
NM_024577.3(SH3TC2):c.*15383C>A rs186004627
NM_024577.3(SH3TC2):c.*15680T>C rs886060112
NM_024577.3(SH3TC2):c.*15823T>A rs4562031
NM_024577.3(SH3TC2):c.*15824G>A rs530880070
NM_024577.3(SH3TC2):c.*16056C>T rs147906062
NM_024577.3(SH3TC2):c.*16257T>C rs572081330
NM_024577.3(SH3TC2):c.*16261C>T rs150690882
NM_024577.3(SH3TC2):c.*16507C>T rs886060111
NM_024577.3(SH3TC2):c.*16509A>G rs886060110
NM_024577.3(SH3TC2):c.*16562G>T rs369963209
NM_024577.3(SH3TC2):c.*16711C>G rs886060109
NM_024577.3(SH3TC2):c.*16855A>G rs886060108
NM_024577.3(SH3TC2):c.*16902G>A rs886060107
NM_024577.3(SH3TC2):c.*16905T>G rs886060105
NM_024577.3(SH3TC2):c.*16928A>G rs760134609
NM_024577.3(SH3TC2):c.*17036C>T rs75086059
NM_024577.3(SH3TC2):c.*17192C>T rs886060104
NM_024577.3(SH3TC2):c.*17662T>C rs556308084
NM_024577.3(SH3TC2):c.*17833T>G rs886060103
NM_024577.3(SH3TC2):c.*18234G>A rs886060102
NM_024577.3(SH3TC2):c.*18635C>T rs886060101
NM_024577.3(SH3TC2):c.*19182A>C rs886060100
NM_024577.3(SH3TC2):c.*19250T>A rs886060099
NM_024577.3(SH3TC2):c.*19342A>G rs886060098
NM_024577.3(SH3TC2):c.*19406A>G rs72835351
NM_024577.3(SH3TC2):c.*19411T>C rs780022559
NM_024577.3(SH3TC2):c.*1979C>T rs886060181
NM_024577.3(SH3TC2):c.*1982C>A rs535127091
NM_024577.3(SH3TC2):c.*20362T>C rs571268825
NM_024577.3(SH3TC2):c.*20412A>T rs774453230
NM_024577.3(SH3TC2):c.*20469C>T rs886060097
NM_024577.3(SH3TC2):c.*20773G>T rs113020040
NM_024577.3(SH3TC2):c.*210C>A rs886060192
NM_024577.3(SH3TC2):c.*21118G>T rs886060095
NM_024577.3(SH3TC2):c.*21532C>A rs763141563
NM_024577.3(SH3TC2):c.*21539T>C rs542529184
NM_024577.3(SH3TC2):c.*21658A>G rs145964634
NM_024577.3(SH3TC2):c.*21703G>A rs761390238
NM_024577.3(SH3TC2):c.*21955A>G rs575501943
NM_024577.3(SH3TC2):c.*22034C>T rs886060093
NM_024577.3(SH3TC2):c.*22168C>G rs886060092
NM_024577.3(SH3TC2):c.*22199C>T rs778637809
NM_024577.3(SH3TC2):c.*22291T>C rs886060091
NM_024577.3(SH3TC2):c.*2248A>G rs187399485
NM_024577.3(SH3TC2):c.*2361A>T rs146327509
NM_024577.3(SH3TC2):c.*2394C>T rs368101139
NM_024577.3(SH3TC2):c.*2500C>A rs559833500
NM_024577.3(SH3TC2):c.*2624A>G rs762855152
NM_024577.3(SH3TC2):c.*281A>G rs886060191
NM_024577.3(SH3TC2):c.*2982T>C rs886060180
NM_024577.3(SH3TC2):c.*3058A>G rs563916447
NM_024577.3(SH3TC2):c.*3165G>A rs886060179
NM_024577.3(SH3TC2):c.*3202T>C rs188625202
NM_024577.3(SH3TC2):c.*341A>G rs868833114
NM_024577.3(SH3TC2):c.*3430T>A rs184043381
NM_024577.3(SH3TC2):c.*3903A>G rs750071171
NM_024577.3(SH3TC2):c.*4131T>C rs141113906
NM_024577.3(SH3TC2):c.*4182A>G rs886060177
NM_024577.3(SH3TC2):c.*4209A>G rs886060175
NM_024577.3(SH3TC2):c.*4232G>A rs886060174
NM_024577.3(SH3TC2):c.*4240C>A rs765837919
NM_024577.3(SH3TC2):c.*4409T>A rs886060173
NM_024577.3(SH3TC2):c.*4511T>C rs578024597
NM_024577.3(SH3TC2):c.*4604G>A rs886060172
NM_024577.3(SH3TC2):c.*4691C>T rs574710725
NM_024577.3(SH3TC2):c.*4920T>G rs550230926
NM_024577.3(SH3TC2):c.*4935A>T rs149921013
NM_024577.3(SH3TC2):c.*5304G>A rs886060171
NM_024577.3(SH3TC2):c.*5305C>A rs886060170
NM_024577.3(SH3TC2):c.*5368C>T rs189202481
NM_024577.3(SH3TC2):c.*5419G>A rs886060169
NM_024577.3(SH3TC2):c.*5576C>T rs886060168
NM_024577.3(SH3TC2):c.*5666A>G rs749263197
NM_024577.3(SH3TC2):c.*5689A>C rs537285537
NM_024577.3(SH3TC2):c.*5740C>T rs886060167
NM_024577.3(SH3TC2):c.*578C>T rs567100275
NM_024577.3(SH3TC2):c.*5933G>A rs886060165
NM_024577.3(SH3TC2):c.*6104C>T rs556527140
NM_024577.3(SH3TC2):c.*623T>C rs886060190
NM_024577.3(SH3TC2):c.*626G>A rs781581124
NM_024577.3(SH3TC2):c.*6392C>A rs114817736
NM_024577.3(SH3TC2):c.*6557T>C rs199797914
NM_024577.3(SH3TC2):c.*6682G>C rs557452648
NM_024577.3(SH3TC2):c.*6836T>C rs757138006
NM_024577.3(SH3TC2):c.*7006T>C rs187720692
NM_024577.3(SH3TC2):c.*7197G>C rs886060162
NM_024577.3(SH3TC2):c.*7256A>C rs886060161
NM_024577.3(SH3TC2):c.*7285G>C rs886060160
NM_024577.3(SH3TC2):c.*7291G>A rs748202204
NM_024577.3(SH3TC2):c.*7391A>C rs886060159
NM_024577.3(SH3TC2):c.*7394A>G rs886060158
NM_024577.3(SH3TC2):c.*7452G>A rs761137746
NM_024577.3(SH3TC2):c.*7570G>A rs886060157
NM_024577.3(SH3TC2):c.*8077A>G rs886060156
NM_024577.3(SH3TC2):c.*8111A>C rs17109205
NM_024577.3(SH3TC2):c.*8216T>C rs886060155
NM_024577.3(SH3TC2):c.*8217A>G rs768467653
NM_024577.3(SH3TC2):c.*8283A>T rs780934660
NM_024577.3(SH3TC2):c.*8313G>A rs770951592
NM_024577.3(SH3TC2):c.*8364C>T rs886060154
NM_024577.3(SH3TC2):c.*8423T>C rs10036103
NM_024577.3(SH3TC2):c.*8521C>A rs886060152
NM_024577.3(SH3TC2):c.*8567G>A rs369239776
NM_024577.3(SH3TC2):c.*86C>T rs886060194
NM_024577.3(SH3TC2):c.*8748G>A rs190904760
NM_024577.3(SH3TC2):c.*882G>A rs775429372
NM_024577.3(SH3TC2):c.*8878T>A rs886060151
NM_024577.3(SH3TC2):c.*9073G>C rs886060150
NM_024577.3(SH3TC2):c.*9233T>A rs886060148
NM_024577.3(SH3TC2):c.*9340G>C rs886060147
NM_024577.3(SH3TC2):c.*9357T>G rs147996031
NM_024577.3(SH3TC2):c.*9503C>T rs533786708
NM_024577.3(SH3TC2):c.*9830C>T rs557247993
NM_024577.3(SH3TC2):c.*9969T>C rs761191045
NM_024577.3(SH3TC2):c.*9972T>C rs778531473
NM_024577.3(SH3TC2):c.*99G>A rs886060193
NM_024577.3(SH3TC2):c.-92C>T rs886060200
NM_024577.3(SH3TC2):c.1002-7G>A rs752528409
NM_024577.3(SH3TC2):c.1105C>T (p.Arg369Cys) rs569974719
NM_024577.3(SH3TC2):c.1245G>A (p.Gly415=) rs748870159
NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041
NM_024577.3(SH3TC2):c.1431G>A (p.Glu477=) rs887057321
NM_024577.3(SH3TC2):c.1721A>G (p.Asn574Ser) rs201256776
NM_024577.3(SH3TC2):c.1767C>T (p.Ser589=) rs139898175
NM_024577.3(SH3TC2):c.1814G>A (p.Arg605His) rs186864272
NM_024577.3(SH3TC2):c.1830G>A (p.Lys610=) rs370025626
NM_024577.3(SH3TC2):c.1831C>A (p.His611Asn) rs886060197
NM_024577.3(SH3TC2):c.1889C>T (p.Pro630Leu) rs749260578
NM_024577.3(SH3TC2):c.2017G>A (p.Ala673Thr) rs201985394
NM_024577.3(SH3TC2):c.2094C>T (p.Ile698=) rs886060196
NM_024577.3(SH3TC2):c.2304C>T (p.Leu768=) rs140829706
NM_024577.3(SH3TC2):c.2305G>A (p.Glu769Lys) rs764436192
NM_024577.3(SH3TC2):c.2398C>T (p.Leu800Phe) rs764616291
NM_024577.3(SH3TC2):c.255C>T (p.Asp85=) rs886060199
NM_024577.3(SH3TC2):c.2657G>A (p.Ser886Asn) rs780085307
NM_024577.3(SH3TC2):c.2671G>A (p.Ala891Thr) rs779223727
NM_024577.3(SH3TC2):c.280-5C>T rs201937366
NM_024577.3(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852
NM_024577.3(SH3TC2):c.285C>T (p.Leu95=) rs574669908
NM_024577.3(SH3TC2):c.3034C>T (p.Arg1012Trp) rs541197556
NM_024577.3(SH3TC2):c.3303G>A (p.Arg1101=) rs755006924
NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=) rs375970910
NM_024577.3(SH3TC2):c.3413G>A (p.Ser1138Asn) rs150805608
NM_024577.3(SH3TC2):c.3433G>T (p.Ala1145Ser) rs141715248
NM_024577.3(SH3TC2):c.3550A>G (p.Met1184Val) rs142451273
NM_024577.3(SH3TC2):c.3600G>A (p.Leu1200=) rs886060195
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.3(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024577.3(SH3TC2):c.3813C>T (p.Ser1271=) rs140985600
NM_024577.3(SH3TC2):c.390C>T (p.Tyr130=) rs776623792
NM_024577.3(SH3TC2):c.529+7G>A rs747615694
NM_024577.3(SH3TC2):c.549C>T (p.Ala183=) rs147013935
NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala) rs148634904
NM_024577.3(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732
NM_024577.3(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676
NM_024577.3(SH3TC2):c.830C>T (p.Thr277Met) rs757969875
NM_024577.3(SH3TC2):c.956G>T (p.Gly319Val) rs753423455
NM_024577.4(SH3TC2):c.*10014T>A
NM_024577.4(SH3TC2):c.*10064C>T
NM_024577.4(SH3TC2):c.*10068C>A
NM_024577.4(SH3TC2):c.*10111T>C
NM_024577.4(SH3TC2):c.*10113T>C
NM_024577.4(SH3TC2):c.*10230A>C
NM_024577.4(SH3TC2):c.*10395A>G
NM_024577.4(SH3TC2):c.*10560T>C
NM_024577.4(SH3TC2):c.*10672A>C
NM_024577.4(SH3TC2):c.*10765A>G
NM_024577.4(SH3TC2):c.*1079T>C
NM_024577.4(SH3TC2):c.*10802A>T
NM_024577.4(SH3TC2):c.*11299C>G
NM_024577.4(SH3TC2):c.*11357G>A
NM_024577.4(SH3TC2):c.*11589C>T
NM_024577.4(SH3TC2):c.*11680C>T
NM_024577.4(SH3TC2):c.*11803A>G
NM_024577.4(SH3TC2):c.*11927T>C
NM_024577.4(SH3TC2):c.*11934A>G
NM_024577.4(SH3TC2):c.*12009T>C
NM_024577.4(SH3TC2):c.*12010C>A
NM_024577.4(SH3TC2):c.*12111C>A
NM_024577.4(SH3TC2):c.*12256G>T
NM_024577.4(SH3TC2):c.*12356A>T
NM_024577.4(SH3TC2):c.*12442A>G
NM_024577.4(SH3TC2):c.*12710G>A
NM_024577.4(SH3TC2):c.*13037G>A
NM_024577.4(SH3TC2):c.*13292G>T
NM_024577.4(SH3TC2):c.*13418G>T
NM_024577.4(SH3TC2):c.*14182A>G
NM_024577.4(SH3TC2):c.*1421A>C
NM_024577.4(SH3TC2):c.*14315A>C
NM_024577.4(SH3TC2):c.*14397A>C
NM_024577.4(SH3TC2):c.*14450A>C
NM_024577.4(SH3TC2):c.*14480A>G
NM_024577.4(SH3TC2):c.*15049A>T
NM_024577.4(SH3TC2):c.*15385A>G
NM_024577.4(SH3TC2):c.*1545A>G
NM_024577.4(SH3TC2):c.*15483T>C
NM_024577.4(SH3TC2):c.*15639A>G
NM_024577.4(SH3TC2):c.*15877G>T
NM_024577.4(SH3TC2):c.*15967C>T
NM_024577.4(SH3TC2):c.*16015G>T
NM_024577.4(SH3TC2):c.*1616C>T
NM_024577.4(SH3TC2):c.*16174A>G
NM_024577.4(SH3TC2):c.*16293C>G
NM_024577.4(SH3TC2):c.*16402G>T
NM_024577.4(SH3TC2):c.*16557T>A
NM_024577.4(SH3TC2):c.*16590A>G
NM_024577.4(SH3TC2):c.*16720T>G
NM_024577.4(SH3TC2):c.*16953T>C
NM_024577.4(SH3TC2):c.*17049C>G
NM_024577.4(SH3TC2):c.*1720T>A
NM_024577.4(SH3TC2):c.*17301T>A
NM_024577.4(SH3TC2):c.*17482A>G
NM_024577.4(SH3TC2):c.*17837T>G
NM_024577.4(SH3TC2):c.*1787G>C
NM_024577.4(SH3TC2):c.*17934T>C
NM_024577.4(SH3TC2):c.*18055C>A
NM_024577.4(SH3TC2):c.*18471A>G
NM_024577.4(SH3TC2):c.*18824T>C
NM_024577.4(SH3TC2):c.*19019T>C
NM_024577.4(SH3TC2):c.*19111G>T
NM_024577.4(SH3TC2):c.*19137C>G
NM_024577.4(SH3TC2):c.*1917C>T
NM_024577.4(SH3TC2):c.*19438C>A
NM_024577.4(SH3TC2):c.*19552G>T
NM_024577.4(SH3TC2):c.*19631T>A
NM_024577.4(SH3TC2):c.*2004A>G
NM_024577.4(SH3TC2):c.*20086A>G
NM_024577.4(SH3TC2):c.*20135C>T
NM_024577.4(SH3TC2):c.*20230G>T
NM_024577.4(SH3TC2):c.*20400A>C
NM_024577.4(SH3TC2):c.*20553A>G
NM_024577.4(SH3TC2):c.*20618C>T
NM_024577.4(SH3TC2):c.*2065C>T
NM_024577.4(SH3TC2):c.*20787G>A
NM_024577.4(SH3TC2):c.*20882A>G
NM_024577.4(SH3TC2):c.*20935C>G
NM_024577.4(SH3TC2):c.*20966T>G
NM_024577.4(SH3TC2):c.*21087A>G
NM_024577.4(SH3TC2):c.*21119G>T
NM_024577.4(SH3TC2):c.*21149A>G
NM_024577.4(SH3TC2):c.*2118G>A
NM_024577.4(SH3TC2):c.*21281T>G
NM_024577.4(SH3TC2):c.*21371A>G
NM_024577.4(SH3TC2):c.*22208T>C
NM_024577.4(SH3TC2):c.*22505G>T
NM_024577.4(SH3TC2):c.*2716T>C
NM_024577.4(SH3TC2):c.*2729T>C
NM_024577.4(SH3TC2):c.*2921G>A
NM_024577.4(SH3TC2):c.*2923A>G
NM_024577.4(SH3TC2):c.*3034A>C
NM_024577.4(SH3TC2):c.*3035C>A
NM_024577.4(SH3TC2):c.*3313G>A
NM_024577.4(SH3TC2):c.*3419C>T
NM_024577.4(SH3TC2):c.*3438T>C
NM_024577.4(SH3TC2):c.*3464C>T
NM_024577.4(SH3TC2):c.*3497G>A
NM_024577.4(SH3TC2):c.*3589G>T
NM_024577.4(SH3TC2):c.*3707C>T
NM_024577.4(SH3TC2):c.*3946C>A
NM_024577.4(SH3TC2):c.*3993G>C
NM_024577.4(SH3TC2):c.*44G>A
NM_024577.4(SH3TC2):c.*4576G>T
NM_024577.4(SH3TC2):c.*4947G>A
NM_024577.4(SH3TC2):c.*4975T>C
NM_024577.4(SH3TC2):c.*5264G>A
NM_024577.4(SH3TC2):c.*5277G>T
NM_024577.4(SH3TC2):c.*5350G>A
NM_024577.4(SH3TC2):c.*5741G>A
NM_024577.4(SH3TC2):c.*5748G>A
NM_024577.4(SH3TC2):c.*574A>C
NM_024577.4(SH3TC2):c.*5820A>G
NM_024577.4(SH3TC2):c.*6382T>C
NM_024577.4(SH3TC2):c.*651C>A
NM_024577.4(SH3TC2):c.*6627C>T
NM_024577.4(SH3TC2):c.*7064A>G
NM_024577.4(SH3TC2):c.*7152G>A
NM_024577.4(SH3TC2):c.*7189C>A
NM_024577.4(SH3TC2):c.*7254A>T
NM_024577.4(SH3TC2):c.*7877A>G
NM_024577.4(SH3TC2):c.*7898A>G
NM_024577.4(SH3TC2):c.*7917A>G
NM_024577.4(SH3TC2):c.*8038A>G
NM_024577.4(SH3TC2):c.*8261G>A
NM_024577.4(SH3TC2):c.*8349T>C
NM_024577.4(SH3TC2):c.*8649A>G
NM_024577.4(SH3TC2):c.*8692T>C
NM_024577.4(SH3TC2):c.*9026A>T
NM_024577.4(SH3TC2):c.*9034A>G
NM_024577.4(SH3TC2):c.*9122G>A
NM_024577.4(SH3TC2):c.*9193A>G
NM_024577.4(SH3TC2):c.*921C>T
NM_024577.4(SH3TC2):c.*9357T>C
NM_024577.4(SH3TC2):c.*9445A>G
NM_024577.4(SH3TC2):c.*9466A>C
NM_024577.4(SH3TC2):c.*9872T>C
NM_024577.4(SH3TC2):c.1507G>A (p.Glu503Lys)
NM_024577.4(SH3TC2):c.1797G>A (p.Leu599=)
NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu)
NM_024577.4(SH3TC2):c.3380G>A rs139192433
NM_024577.4(SH3TC2):c.3676-13A>G
NM_024577.4(SH3TC2):c.660G>C (p.Val220=) rs202052720
NM_024577.4(SH3TC2):c.971G>A (p.Arg324Lys)

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