ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.1587T>G (p.Arg529=) rs1432794 0.97933
NM_024577.4(SH3TC2):c.*3136G>A rs1019927 0.97931
NM_024577.4(SH3TC2):c.*15823T>C rs4562031 0.77381
NM_024577.4(SH3TC2):c.*19919T>C rs2217638 0.77125
NM_024577.4(SH3TC2):c.*18554G>T rs10040598 0.76741
NM_024577.4(SH3TC2):c.*16950T>C rs10040798 0.76017
NM_024577.4(SH3TC2):c.*17703A>G rs4235739 0.59322
NM_024577.4(SH3TC2):c.*16020A>C rs4543254 0.57641
NM_024577.4(SH3TC2):c.*11390A>G rs3213854 0.52790
NM_024577.4(SH3TC2):c.*3077C>T rs1045942 0.52772
NM_024577.4(SH3TC2):c.*5490G>A rs1432795 0.52698
NM_024577.4(SH3TC2):c.*19040A>G rs930205 0.51121
NM_024577.4(SH3TC2):c.*19573G>A rs4560536 0.51021
NM_024577.4(SH3TC2):c.*7292C>T rs1347130 0.49144
NM_024577.4(SH3TC2):c.*14766T>A rs891919 0.49105
NM_024577.4(SH3TC2):c.1194T>C (p.Gly398=) rs1432793 0.48793
NM_024577.4(SH3TC2):c.*16631G>A rs4705303 0.45194
NM_024577.4(SH3TC2):c.*3196T>C rs3763022 0.34686
NM_024577.4(SH3TC2):c.*929G>C rs1432798 0.31381
NM_024577.4(SH3TC2):c.*1909G>T rs998304 0.23360
NM_024577.4(SH3TC2):c.*1639T>C rs1007400 0.23355
NM_024577.4(SH3TC2):c.*5799C>T rs17109208 0.23286
NM_024577.4(SH3TC2):c.*14562G>A rs17109198 0.22872
NM_024577.4(SH3TC2):c.*14856C>A rs891920 0.22858
NM_024577.4(SH3TC2):c.*2956C>T rs3763020 0.22548
NM_024577.4(SH3TC2):c.*8248G>C rs56309414 0.22436
NM_024577.4(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902 0.22262
NM_024577.4(SH3TC2):c.*6436G>T rs11168079 0.19789
NM_024577.4(SH3TC2):c.*719G>A rs10050933 0.18073
NM_024577.4(SH3TC2):c.*5999G>A rs79866394 0.16703
NM_024577.4(SH3TC2):c.*4719C>G rs6885467 0.16464
NM_024577.4(SH3TC2):c.*1309C>T rs1007401 0.16452
NM_024577.4(SH3TC2):c.*6692A>G rs11168078 0.16452
NM_024577.4(SH3TC2):c.*17903A>G rs76444127 0.16396
NM_024577.4(SH3TC2):c.*14621G>T rs17795097 0.16395
NM_024577.4(SH3TC2):c.*20463T>C rs77021631 0.16394
NM_024577.4(SH3TC2):c.*20166T>A rs17795091 0.16389
NM_024577.4(SH3TC2):c.*10968G>A rs13166730 0.11562
NM_024577.4(SH3TC2):c.*8756G>T rs7733177 0.08504
NM_024577.4(SH3TC2):c.*19519G>A rs10039839 0.07821
NM_024577.4(SH3TC2):c.*11852G>T rs13359285 0.07778
NM_024577.4(SH3TC2):c.*1935T>C rs6883926 0.04318
NM_024577.4(SH3TC2):c.2235T>G (p.Ala745=) rs78120278 0.03339
NM_024577.4(SH3TC2):c.*17317G>A rs78254952 0.03209
NM_024577.4(SH3TC2):c.*2397G>A rs17722155 0.03207
NM_024577.4(SH3TC2):c.*3860G>A rs1432797 0.03207
NM_024577.4(SH3TC2):c.*10485G>A rs76931184 0.03206
NM_024577.4(SH3TC2):c.*6162C>T rs17795115 0.03204
NM_024577.4(SH3TC2):c.*2900G>T rs3763019 0.03116
NM_024577.4(SH3TC2):c.*11120G>A rs2069087 0.03085
NM_024577.4(SH3TC2):c.*2428C>T rs149384180 0.03078
NM_024577.4(SH3TC2):c.512G>A (p.Gly171Glu) rs17722293 0.02854
NM_024577.4(SH3TC2):c.*14411G>A rs143623684 0.02369
NM_024577.4(SH3TC2):c.1350G>A (p.Pro450=) rs17722227 0.02289
NM_024577.4(SH3TC2):c.3472G>A (p.Val1158Ile) rs55853803 0.02130
NM_024577.4(SH3TC2):c.*20207C>T rs114079860 0.02033
NM_024577.4(SH3TC2):c.2872+9G>A rs76488338 0.01755
NM_024577.4(SH3TC2):c.*12969C>A rs76955068 0.01682
NM_024577.4(SH3TC2):c.*18299C>T rs147903089 0.01595
NM_024577.4(SH3TC2):c.*14750A>G rs149133999 0.01302
NM_024577.4(SH3TC2):c.*10767G>A rs139720866 0.01293
NM_024577.4(SH3TC2):c.477T>A (p.Ser159=) rs77574155 0.01137
NM_024577.4(SH3TC2):c.*2237G>A rs76481943 0.01060
NM_024577.4(SH3TC2):c.*14894G>A rs17109192 0.01038
NM_024577.4(SH3TC2):c.*6242A>G rs142279453 0.00889
NM_024577.4(SH3TC2):c.*122G>T rs114151926 0.00888
NM_024577.4(SH3TC2):c.*11604G>A rs143229015 0.00876
NM_024577.4(SH3TC2):c.*8053G>A rs115027318 0.00859
NM_024577.4(SH3TC2):c.*3694T>A rs115774169 0.00844
NM_024577.4(SH3TC2):c.645C>T (p.Ser215=) rs80227512 0.00587
NM_024577.4(SH3TC2):c.*15061C>T rs115722370 0.00585
NM_024577.4(SH3TC2):c.*12190G>A rs116091693 0.00555
NM_024577.4(SH3TC2):c.*10101C>T rs552099019 0.00533
NM_024577.4(SH3TC2):c.*10099A>T rs570266229 0.00531
NM_024577.4(SH3TC2):c.2087A>G (p.His696Arg) rs17109261 0.00521
NM_024577.4(SH3TC2):c.*19270G>A rs149188140 0.00516
NM_024577.4(SH3TC2):c.*2862G>A rs116548620 0.00495
NM_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys) rs73795753 0.00494
NM_024577.4(SH3TC2):c.*10120C>A rs13355933 0.00493
NM_024577.4(SH3TC2):c.*47C>T rs79738100 0.00493
NM_024577.4(SH3TC2):c.*7251A>G rs73795731 0.00491
NM_024577.4(SH3TC2):c.*13514A>G rs78516040 0.00490
NM_024577.4(SH3TC2):c.*1246G>A rs142628780 0.00469
NM_024577.4(SH3TC2):c.2913C>T (p.Ser971=) rs13436308 0.00462
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630 0.00407
NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val) rs115577291 0.00390
NM_024577.4(SH3TC2):c.*6051G>A rs146293131 0.00361
NM_024577.4(SH3TC2):c.3294C>T (p.Thr1098=) rs193067884 0.00337
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_024577.4(SH3TC2):c.558C>T (p.Ser186=) rs141289653 0.00290
NM_024577.4(SH3TC2):c.*4638A>T rs117883175 0.00201
NM_024577.4(SH3TC2):c.*391G>C rs117139060 0.00153
NM_024577.4(SH3TC2):c.1177+10G>A rs139257109 0.00153
NM_024577.4(SH3TC2):c.3834G>A (p.Ala1278=) rs117804174 0.00133
NM_024577.4(SH3TC2):c.*39A>C rs76579569 0.00127
NM_024577.4(SH3TC2):c.*4555A>G rs117287440 0.00126
NM_024577.4(SH3TC2):c.2322C>T (p.Asp774=) rs17795193 0.00125
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276 0.00114
NM_024577.4(SH3TC2):c.*18699T>G rs117371981 0.00086
NM_024577.4(SH3TC2):c.*9504G>A rs17722113 0.00073
NM_024577.4(SH3TC2):c.*4603C>T rs144955630 0.00027
NM_024577.4(SH3TC2):c.*6623G>A rs78100143 0.00027
NM_024577.4(SH3TC2):c.*10614G>A rs114217114
NM_024577.4(SH3TC2):c.*17036C>G rs75086059
NM_024577.4(SH3TC2):c.*19406A>T rs72835351
NM_024577.4(SH3TC2):c.*3246A>C rs73795732
NM_024577.4(SH3TC2):c.*6392C>T rs114817736
NM_024577.4(SH3TC2):c.*6510G>A rs116056843
NM_024577.4(SH3TC2):c.*7451C>T rs114534145
NM_024577.4(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030
NM_024577.4(SH3TC2):c.3594A>G (p.Pro1198=) rs6871030

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