ClinVar Miner

List of variants in gene SH3TC2 studied for Charcot-Marie-Tooth disease

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Total variants: 203
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HGVS dbSNP
NM_024577.3(SH3TC2):c.*882G>A rs775429372
NM_024577.3(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_024577.3(SH3TC2):c.1002-5T>A rs769711653
NM_024577.3(SH3TC2):c.1017C>T (p.Ala339=) rs201779392
NM_024577.3(SH3TC2):c.1177+10G>A rs139257109
NM_024577.3(SH3TC2):c.1178-1G>A rs80338922
NM_024577.3(SH3TC2):c.1194T>C (p.Gly398=) rs1432793
NM_024577.3(SH3TC2):c.1194_1195delinsCC (p.Phe399Leu) rs1554121791
NM_024577.3(SH3TC2):c.1254G>T (p.Gln418His) rs146997517
NM_024577.3(SH3TC2):c.1285G>T (p.Glu429Ter) rs111995807
NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041
NM_024577.3(SH3TC2):c.1299G>A (p.Ser433=) rs140904010
NM_024577.3(SH3TC2):c.1318C>T (p.Arg440Cys) rs768012192
NM_024577.3(SH3TC2):c.1342G>C (p.Asp448His) rs587781252
NM_024577.3(SH3TC2):c.1350G>A (p.Pro450=) rs17722227
NM_024577.3(SH3TC2):c.1378C>T (p.Gln460Ter) rs1580901350
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276
NM_024577.3(SH3TC2):c.1384G>T (p.Glu462Ter) rs749850181
NM_024577.3(SH3TC2):c.1402G>T (p.Ala468Ser) rs6875902
NM_024577.3(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024577.3(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630
NM_024577.3(SH3TC2):c.1443C>T (p.Asp481=) rs146666910
NM_024577.3(SH3TC2):c.1482C>T (p.Leu494=) rs200665714
NM_024577.3(SH3TC2):c.1483A>G (p.Thr495Ala) rs10077543
NM_024577.3(SH3TC2):c.1587T>G (p.Arg529=) rs1432794
NM_024577.3(SH3TC2):c.1607G>A (p.Arg536Gln) rs369977771
NM_024577.3(SH3TC2):c.1651T>C (p.Phe551Leu) rs1554121720
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.1768G>A (p.Ala590Thr) rs149244124
NM_024577.3(SH3TC2):c.1814G>A (p.Arg605His) rs186864272
NM_024577.3(SH3TC2):c.1839C>T (p.Leu613=) rs182893450
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.1894_1897delinsAAA (p.Glu632fs) rs1580900758
NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.1973G>A (p.Arg658His) rs138040787
NM_024577.3(SH3TC2):c.1982T>C (p.Leu661Pro) rs80338927
NM_024577.3(SH3TC2):c.1985T>C (p.Leu662Pro) rs1580900642
NM_024577.3(SH3TC2):c.2087A>G (p.His696Arg) rs17109261
NM_024577.3(SH3TC2):c.217_227delinsCCAGTAA (p.Ala73fs) rs80338919
NM_024577.3(SH3TC2):c.2211_2213del (p.Cys737_Pro738delinsTer) rs1580900438
NM_024577.3(SH3TC2):c.2235T>G (p.Ala745=) rs78120278
NM_024577.3(SH3TC2):c.2257C>T (p.Arg753Trp) rs530824367
NM_024577.3(SH3TC2):c.2273C>A (p.Ala758Asp) rs200006756
NM_024577.3(SH3TC2):c.2304C>T (p.Leu768=) rs140829706
NM_024577.3(SH3TC2):c.2322C>T (p.Asp774=) rs17795193
NM_024577.3(SH3TC2):c.2385C>T (p.Ser795=) rs145345364
NM_024577.3(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765
NM_024577.3(SH3TC2):c.2492G>A (p.Ser831Asn) rs375034766
NM_024577.3(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150
NM_024577.3(SH3TC2):c.2581C>T (p.Arg861Trp) rs147490172
NM_024577.3(SH3TC2):c.2582G>A (p.Arg861Gln) rs142971473
NM_024577.3(SH3TC2):c.2633C>A (p.Ala878Asp) rs1580899932
NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930
NM_024577.3(SH3TC2):c.2642A>T (p.Asn881Ile) rs80338930
NM_024577.3(SH3TC2):c.2674C>T (p.Gln892Ter) rs757797985
NM_024577.3(SH3TC2):c.2691C>G (p.Asn897Lys) rs73795753
NM_024577.3(SH3TC2):c.279+4A>G rs371909418
NM_024577.3(SH3TC2):c.279G>A (p.Lys93=) rs776221160
NM_024577.3(SH3TC2):c.280-5C>T rs201937366
NM_024577.3(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852
NM_024577.3(SH3TC2):c.2873-14T>A rs1580899613
NM_024577.3(SH3TC2):c.2873-18T>C rs113514936
NM_024577.3(SH3TC2):c.28del (p.Glu10fs) rs80338918
NM_024577.3(SH3TC2):c.2913C>T (p.Ser971=) rs13436308
NM_024577.3(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427
NM_024577.3(SH3TC2):c.2990G>A (p.Arg997Gln) rs140307699
NM_024577.3(SH3TC2):c.3013G>T (p.Glu1005Ter) rs147895061
NM_024577.3(SH3TC2):c.3127G>T (p.Ala1043Ser) rs200819602
NM_024577.3(SH3TC2):c.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.3(SH3TC2):c.3160C>T (p.His1054Tyr) rs769133498
NM_024577.3(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843
NM_024577.3(SH3TC2):c.3202C>T (p.Gln1068Ter) rs774698284
NM_024577.3(SH3TC2):c.3233_3234delAG rs1580889962
NM_024577.3(SH3TC2):c.3294C>T (p.Thr1098=) rs193067884
NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=) rs375970910
NM_024577.3(SH3TC2):c.3321C>A (p.Tyr1107Ter) rs1580889866
NM_024577.3(SH3TC2):c.3326G>C (p.Arg1109Pro) rs80338935
NM_024577.3(SH3TC2):c.3332G>T (p.Gly1111Val) rs200801053
NM_024577.3(SH3TC2):c.3362C>T (p.Ala1121Val) rs115577291
NM_024577.3(SH3TC2):c.3379C>T (p.Arg1127Trp) rs1580888993
NM_024577.3(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433
NM_024577.3(SH3TC2):c.3413G>A (p.Ser1138Asn) rs150805608
NM_024577.3(SH3TC2):c.3472G>A (p.Val1158Ile) rs55853803
NM_024577.3(SH3TC2):c.3479-8A>G rs147800229
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.3(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983
NM_024577.3(SH3TC2):c.3550A>G (p.Met1184Val) rs142451273
NM_024577.3(SH3TC2):c.3594A>C (p.Pro1198=) rs6871030
NM_024577.3(SH3TC2):c.3594A>G (p.Pro1198=) rs6871030
NM_024577.3(SH3TC2):c.3596G>A (p.Trp1199Ter) rs761972717
NM_024577.3(SH3TC2):c.3611A>G (p.Lys1204Arg) rs143436632
NM_024577.3(SH3TC2):c.3676-1G>A rs1306229414
NM_024577.3(SH3TC2):c.3676-8G>A rs772823083
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.3(SH3TC2):c.3723G>A (p.Ala1241=) rs777895612
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.3834G>A (p.Ala1278=) rs117804174
NM_024577.3(SH3TC2):c.3847G>T (p.Gly1283Cys) rs370844006
NM_024577.3(SH3TC2):c.385+3A>G rs184593694
NM_024577.3(SH3TC2):c.477T>A (p.Ser159=) rs77574155
NM_024577.3(SH3TC2):c.505T>C (p.Tyr169His) rs80359890
NM_024577.3(SH3TC2):c.512G>A (p.Gly171Glu) rs17722293
NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met) rs147633804
NM_024577.3(SH3TC2):c.524del (p.Gln175fs) rs1561770179
NM_024577.3(SH3TC2):c.529+8T>A rs780594631
NM_024577.3(SH3TC2):c.530-1G>A rs1580910061
NM_024577.3(SH3TC2):c.530-2A>G rs80338920
NM_024577.3(SH3TC2):c.549C>T (p.Ala183=) rs147013935
NM_024577.3(SH3TC2):c.558C>T (p.Ser186=) rs141289653
NM_024577.3(SH3TC2):c.559G>A (p.Val187Met) rs745613768
NM_024577.3(SH3TC2):c.596C>T (p.Thr199Ile) rs368872316
NM_024577.3(SH3TC2):c.645C>T (p.Ser215=) rs80227512
NM_024577.3(SH3TC2):c.661T>C (p.Ser221Pro) rs747024391
NM_024577.3(SH3TC2):c.680G>A (p.Arg227Gln) rs1257812868
NM_024577.3(SH3TC2):c.689T>C (p.Val230Ala) rs148634904
NM_024577.3(SH3TC2):c.73G>T (p.Asp25Tyr) rs10066882
NM_024577.3(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732
NM_024577.3(SH3TC2):c.793T>A (p.Ser265Thr) rs1580909284
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.894C>T (p.Ile298=) rs779808918
NM_024577.3(SH3TC2):c.920G>A (p.Trp307Ter) rs80338921
NM_024577.3(SH3TC2):c.957del (p.Phe320fs) rs1554122541
NM_024577.4(SH3TC2):c.*858_*862del rs1561755591
NM_024577.4(SH3TC2):c.*861dup rs5872107
NM_024577.4(SH3TC2):c.1002-8C>T rs748766254
NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala) rs0
NM_024577.4(SH3TC2):c.1136-12A>G rs0
NM_024577.4(SH3TC2):c.1163C>T (p.Pro388Leu) rs0
NM_024577.4(SH3TC2):c.1168G>T (p.Asp390Tyr) rs0
NM_024577.4(SH3TC2):c.1177+18T>A rs0
NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr) rs0
NM_024577.4(SH3TC2):c.1322T>C (p.Leu441Pro) rs0
NM_024577.4(SH3TC2):c.1349C>T (p.Pro450Leu) rs0
NM_024577.4(SH3TC2):c.1405C>T (p.Pro469Ser) rs0
NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys) rs0
NM_024577.4(SH3TC2):c.151+15_151+16del rs0
NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val) rs0
NM_024577.4(SH3TC2):c.1584C>G (p.Ala528=) rs0
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=) rs372749343
NM_024577.4(SH3TC2):c.1748G>C (p.Arg583Thr) rs0
NM_024577.4(SH3TC2):c.1813C>T (p.Arg605Cys) rs778936762
NM_024577.4(SH3TC2):c.1890G>A (p.Pro630=) rs0
NM_024577.4(SH3TC2):c.1915del (p.Ala639fs) rs1580900732
NM_024577.4(SH3TC2):c.192G>T (p.Arg64Ser) rs0
NM_024577.4(SH3TC2):c.2036T>G (p.Leu679Arg) rs0
NM_024577.4(SH3TC2):c.2095C>T (p.Gln699Ter) rs0
NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu) rs0
NM_024577.4(SH3TC2):c.214G>A (p.Glu72Lys) rs0
NM_024577.4(SH3TC2):c.2184C>A (p.Gly728=) rs0
NM_024577.4(SH3TC2):c.2228C>G (p.Ala743Gly) rs974346945
NM_024577.4(SH3TC2):c.2263A>G (p.Thr755Ala) rs0
NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met) rs0
NM_024577.4(SH3TC2):c.229C>T (p.Arg77Trp) rs0
NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser) rs0
NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His) rs0
NM_024577.4(SH3TC2):c.2487_2488AG[1] (p.Glu830fs) rs0
NM_024577.4(SH3TC2):c.2535A>C (p.Ala845=) rs0
NM_024577.4(SH3TC2):c.253del (p.Asp85fs) rs1580914356
NM_024577.4(SH3TC2):c.2551_2554dup (p.Val852fs) rs0
NM_024577.4(SH3TC2):c.2554G>A (p.Val852Met) rs0
NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=) rs0
NM_024577.4(SH3TC2):c.280-1334dup rs752479043
NM_024577.4(SH3TC2):c.280-4G>A rs0
NM_024577.4(SH3TC2):c.2818C>A (p.Leu940Ile) rs0
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.4(SH3TC2):c.2873-16C>T rs0
NM_024577.4(SH3TC2):c.2873-17C>T rs0
NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn) rs0
NM_024577.4(SH3TC2):c.2962C>A (p.Leu988Met) rs0
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs) rs1174949678
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) rs537759361
NM_024577.4(SH3TC2):c.3204+5G>A rs0
NM_024577.4(SH3TC2):c.3292A>C (p.Thr1098Pro) rs77636085
NM_024577.4(SH3TC2):c.3295dup (p.Arg1099fs) rs1580889900
NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His) rs0
NM_024577.4(SH3TC2):c.3305del (p.His1102fs) rs1580889892
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_024577.4(SH3TC2):c.3479-20C>T rs0
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=) rs762263591
NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=) rs0
NM_024577.4(SH3TC2):c.3616G>A (p.Ala1206Thr) rs0
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp) rs0
NM_024577.4(SH3TC2):c.3773A>G (p.Asp1258Gly) rs0
NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr) rs0
NM_024577.4(SH3TC2):c.3856C>G (p.Leu1286Val) rs0
NM_024577.4(SH3TC2):c.52+4A>G rs0
NM_024577.4(SH3TC2):c.53-17del rs0
NM_024577.4(SH3TC2):c.543C>T (p.Cys181=) rs371302639
NM_024577.4(SH3TC2):c.54dup (p.Lys19Ter) rs1580917136
NM_024577.4(SH3TC2):c.620C>T (p.Ser207Leu) rs0
NM_024577.4(SH3TC2):c.660G>C (p.Val220=) rs202052720
NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp) rs0
NM_024577.4(SH3TC2):c.687G>C (p.Leu229=) rs0
NM_024577.4(SH3TC2):c.688del (p.Val230fs) rs775740308
NM_024577.4(SH3TC2):c.731+17C>A rs0
NM_024577.4(SH3TC2):c.822_850dup (p.Lys284delinsArgProTer) rs0
NM_024577.4(SH3TC2):c.945A>G (p.Ser315=) rs0

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