ClinVar Miner

List of variants in gene SH3TC2 reported as uncertain significance for Charcot-Marie-Tooth disease

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 123
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) rs143032801 0.00173
NM_024577.4(SH3TC2):c.79A>G (p.Thr27Ala) rs141649676 0.00133
NM_024577.4(SH3TC2):c.73G>T (p.Asp25Tyr) rs10066882 0.00128
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276 0.00114
NM_024577.4(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433 0.00108
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041 0.00088
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala) rs148634904 0.00086
NM_024577.4(SH3TC2):c.3292A>C (p.Thr1098Pro) rs77636085 0.00075
NM_024577.4(SH3TC2):c.1483A>G (p.Thr495Ala) rs10077543 0.00063
NM_024577.4(SH3TC2):c.3550A>G (p.Met1184Val) rs142451273 0.00051
NM_024577.4(SH3TC2):c.2990G>A (p.Arg997Gln) rs140307699 0.00047
NM_024577.4(SH3TC2):c.1768G>A (p.Ala590Thr) rs149244124 0.00045
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852 0.00043
NM_024577.4(SH3TC2):c.751C>T (p.Pro251Ser) rs144963732 0.00028
NM_024577.4(SH3TC2):c.*882G>A rs775429372 0.00027
NM_024577.4(SH3TC2):c.385+3A>G rs184593694 0.00026
NM_024577.4(SH3TC2):c.1973G>A (p.Arg658His) rs138040787 0.00016
NM_024577.4(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427 0.00016
NM_024577.4(SH3TC2):c.1607G>A (p.Arg536Gln) rs369977771 0.00014
NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln) rs142971473 0.00013
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843 0.00013
NM_024577.4(SH3TC2):c.3127G>T (p.Ala1043Ser) rs200819602 0.00012
NM_024577.4(SH3TC2):c.2273C>A (p.Ala758Asp) rs200006756 0.00010
NM_024577.4(SH3TC2):c.3413G>A (p.Ser1138Asn) rs150805608 0.00010
NM_024577.4(SH3TC2):c.1163C>T (p.Pro388Leu) rs146364285 0.00008
NM_024577.4(SH3TC2):c.517C>A (p.Leu173Met) rs147633804 0.00007
NM_024577.4(SH3TC2):c.1721A>G (p.Asn574Ser) rs201256776 0.00006
NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn) rs375034766 0.00006
NM_024577.4(SH3TC2):c.2257C>T (p.Arg753Trp) rs530824367 0.00005
NM_024577.4(SH3TC2):c.1168G>T (p.Asp390Tyr) rs771921298 0.00004
NM_024577.4(SH3TC2):c.1318C>T (p.Arg440Cys) rs768012192 0.00004
NM_024577.4(SH3TC2):c.3611A>G (p.Lys1204Arg) rs143436632 0.00004
NM_024577.4(SH3TC2):c.1342G>C (p.Asp448His) rs587781252 0.00003
NM_024577.4(SH3TC2):c.229C>T (p.Arg77Trp) rs185149793 0.00003
NM_024577.4(SH3TC2):c.279G>A (p.Lys93=) rs776221160 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_024577.4(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983 0.00003
NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala) rs772832716 0.00002
NM_024577.4(SH3TC2):c.1254G>T (p.Gln418His) rs146997517 0.00002
NM_024577.4(SH3TC2):c.1349C>T (p.Pro450Leu) rs759614174 0.00002
NM_024577.4(SH3TC2):c.1813C>T (p.Arg605Cys) rs778936762 0.00002
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925 0.00002
NM_024577.4(SH3TC2):c.3616G>A (p.Ala1206Thr) rs148831039 0.00002
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp) rs758669363 0.00002
NM_024577.4(SH3TC2):c.1002-5T>A rs769711653 0.00001
NM_024577.4(SH3TC2):c.1322T>C (p.Leu441Pro) rs1172985848 0.00001
NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys) rs757167683 0.00001
NM_024577.4(SH3TC2):c.1651T>C (p.Phe551Leu) rs1554121720 0.00001
NM_024577.4(SH3TC2):c.2140G>C (p.Val714Leu) rs1303051798 0.00001
NM_024577.4(SH3TC2):c.214G>A (p.Glu72Lys) rs779075488 0.00001
NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser) rs1416387782 0.00001
NM_024577.4(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150 0.00001
NM_024577.4(SH3TC2):c.2581C>T (p.Arg861Trp) rs147490172 0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_024577.4(SH3TC2):c.2674C>T (p.Gln892Ter) rs757797985 0.00001
NM_024577.4(SH3TC2):c.279+4A>G rs371909418 0.00001
NM_024577.4(SH3TC2):c.2818C>A (p.Leu940Ile) rs1380115510 0.00001
NM_024577.4(SH3TC2):c.3143T>C (p.Leu1048Pro) rs537759361 0.00001
NM_024577.4(SH3TC2):c.3160C>T (p.His1054Tyr) rs769133498 0.00001
NM_024577.4(SH3TC2):c.3202C>T (p.Gln1068Ter) rs774698284 0.00001
NM_024577.4(SH3TC2):c.3296G>A (p.Arg1099His) rs748413646 0.00001
NM_024577.4(SH3TC2):c.3332G>T (p.Gly1111Val) rs200801053 0.00001
NM_024577.4(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462 0.00001
NM_024577.4(SH3TC2):c.3596G>A (p.Trp1199Ter) rs761972717 0.00001
NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr) rs781625125 0.00001
NM_024577.4(SH3TC2):c.559G>A (p.Val187Met) rs745613768 0.00001
NM_024577.4(SH3TC2):c.596C>T (p.Thr199Ile) rs368872316 0.00001
NM_024577.4(SH3TC2):c.680G>A (p.Arg227Gln) rs1257812868 0.00001
NM_024577.4(SH3TC2):c.830C>T (p.Thr277Met) rs757969875 0.00001
NM_024577.4(SH3TC2):c.*858_*862del rs1561755591
NM_024577.4(SH3TC2):c.*861dup rs5872107
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_024577.4(SH3TC2):c.1178-1G>A rs80338922
NM_024577.4(SH3TC2):c.1194_1195delinsCC (p.Phe399Leu) rs1554121791
NM_024577.4(SH3TC2):c.1285G>T (p.Glu429Ter) rs111995807
NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr) rs1754119445
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024577.4(SH3TC2):c.1405C>T (p.Pro469Ser) rs1370966250
NM_024577.4(SH3TC2):c.1583C>T (p.Ala528Val) rs537134516
NM_024577.4(SH3TC2):c.1748G>C (p.Arg583Thr) rs757781673
NM_024577.4(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs) rs1580900758
NM_024577.4(SH3TC2):c.1915del (p.Ala639fs) rs1580900732
NM_024577.4(SH3TC2):c.192G>T (p.Arg64Ser) rs571440448
NM_024577.4(SH3TC2):c.1982T>C (p.Leu661Pro) rs80338927
NM_024577.4(SH3TC2):c.1985T>C (p.Leu662Pro) rs1580900642
NM_024577.4(SH3TC2):c.2036T>G (p.Leu679Arg) rs1754096264
NM_024577.4(SH3TC2):c.217_227delinsCCAGTAA (p.Ala73fs) rs80338919
NM_024577.4(SH3TC2):c.2211_2213del (p.Cys737_Pro738delinsTer) rs1580900438
NM_024577.4(SH3TC2):c.2228C>G (p.Ala743Gly) rs974346945
NM_024577.4(SH3TC2):c.2263A>G (p.Thr755Ala) rs1332446150
NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met) rs1754090424
NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His) rs746538256
NM_024577.4(SH3TC2):c.253del (p.Asp85fs) rs1580914356
NM_024577.4(SH3TC2):c.2554G>A (p.Val852Met) rs1754081317
NM_024577.4(SH3TC2):c.2633C>A (p.Ala878Asp) rs1580899932
NM_024577.4(SH3TC2):c.2642A>T (p.Asn881Ile) rs80338930
NM_024577.4(SH3TC2):c.280-1334dup rs752479043
NM_024577.4(SH3TC2):c.2873-14T>A rs1580899613
NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn) rs1205847384
NM_024577.4(SH3TC2):c.28del (p.Glu10fs) rs80338918
NM_024577.4(SH3TC2):c.2962C>A (p.Leu988Met) rs763964456
NM_024577.4(SH3TC2):c.3013G>T (p.Glu1005Ter) rs147895061
NM_024577.4(SH3TC2):c.3204+5G>A rs1753801589
NM_024577.4(SH3TC2):c.3233_3234del (p.Glu1078fs) rs1580889962
NM_024577.4(SH3TC2):c.3295dup (p.Arg1099fs) rs1580889900
NM_024577.4(SH3TC2):c.3305del (p.His1102fs) rs1580889892
NM_024577.4(SH3TC2):c.3321C>A (p.Tyr1107Ter) rs1580889866
NM_024577.4(SH3TC2):c.3326G>C (p.Arg1109Pro) rs80338935
NM_024577.4(SH3TC2):c.3379C>T (p.Arg1127Trp) rs1580888993
NM_024577.4(SH3TC2):c.3676-1G>A rs1306229414
NM_024577.4(SH3TC2):c.3676-8G>A rs772823083
NM_024577.4(SH3TC2):c.3773A>G (p.Asp1258Gly) rs1753657973
NM_024577.4(SH3TC2):c.3847G>T (p.Gly1283Cys) rs370844006
NM_024577.4(SH3TC2):c.3856C>G (p.Leu1286Val) rs1261276778
NM_024577.4(SH3TC2):c.530-1G>A rs1580910061
NM_024577.4(SH3TC2):c.530-2A>G rs80338920
NM_024577.4(SH3TC2):c.54dup (p.Lys19Ter) rs1580917136
NM_024577.4(SH3TC2):c.620C>T (p.Ser207Leu) rs1754371447
NM_024577.4(SH3TC2):c.661T>C (p.Ser221Pro) rs747024391
NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp) rs532463685
NM_024577.4(SH3TC2):c.793T>A (p.Ser265Thr) rs1580909284
NM_024577.4(SH3TC2):c.920G>A (p.Trp307Ter) rs80338921

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.