ClinVar Miner

List of variants in gene SH3TC2 reported as uncertain significance for Charcot-Marie-Tooth disease type 4

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Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 495
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.*9969_*9972del rs113518050 0.00048
NM_024577.4(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852 0.00043
NM_024577.4(SH3TC2):c.2552G>A (p.Arg851Gln) rs751621364 0.00036
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.3049G>A (p.Ala1017Thr) rs186029710 0.00013
NM_024577.4(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843 0.00013
NM_024577.4(SH3TC2):c.*12088_*12091del rs886060127 0.00011
NM_024577.4(SH3TC2):c.2273C>A (p.Ala758Asp) rs200006756 0.00010
NM_024577.4(SH3TC2):c.3013G>A (p.Glu1005Lys) rs147895061 0.00010
NM_024577.4(SH3TC2):c.3413G>A (p.Ser1138Asn) rs150805608 0.00010
NM_024577.4(SH3TC2):c.*21395T>C rs886060094 0.00009
NM_024577.4(SH3TC2):c.259G>C (p.Glu87Gln) rs947749200 0.00009
NM_024577.4(SH3TC2):c.3095G>A (p.Arg1032His) rs372839905 0.00007
NM_024577.4(SH3TC2):c.*7269A>G rs763490898 0.00006
NM_024577.4(SH3TC2):c.1529A>C (p.Tyr510Ser) rs757294130 0.00006
NM_024577.4(SH3TC2):c.1921C>T (p.Arg641Cys) rs752002618 0.00006
NM_024577.4(SH3TC2):c.2492G>A (p.Ser831Asn) rs375034766 0.00006
NM_024577.4(SH3TC2):c.3035G>A (p.Arg1012Gln) rs140666774 0.00006
NM_024577.4(SH3TC2):c.3077G>A (p.Cys1026Tyr) rs367656036 0.00006
NM_024577.4(SH3TC2):c.3094C>T (p.Arg1032Cys) rs375603885 0.00006
NM_024577.4(SH3TC2):c.3847G>C (p.Gly1283Arg) rs370844006 0.00006
NM_024577.4(SH3TC2):c.2257C>T (p.Arg753Trp) rs530824367 0.00005
NM_024577.4(SH3TC2):c.2348C>T (p.Ala783Val) rs377372640 0.00005
NM_024577.4(SH3TC2):c.1318C>T (p.Arg440Cys) rs768012192 0.00004
NM_024577.4(SH3TC2):c.181C>T (p.Arg61Cys) rs773087313 0.00004
NM_024577.4(SH3TC2):c.1901G>C (p.Arg634Thr) rs1293958398 0.00004
NM_024577.4(SH3TC2):c.1922G>A (p.Arg641His) rs199991156 0.00004
NM_024577.4(SH3TC2):c.265C>T (p.Arg89Cys) rs142488510 0.00004
NM_024577.4(SH3TC2):c.32G>A (p.Arg11Gln) rs558800325 0.00004
NM_024577.4(SH3TC2):c.3610A>G (p.Lys1204Glu) rs571409696 0.00004
NM_024577.4(SH3TC2):c.3611A>G (p.Lys1204Arg) rs143436632 0.00004
NM_024577.4(SH3TC2):c.3675+5G>C rs1302647300 0.00004
NM_024577.4(SH3TC2):c.3736G>A (p.Asp1246Asn) rs753142542 0.00004
NM_024577.4(SH3TC2):c.86C>T (p.Ser29Leu) rs559570623 0.00004
NM_024577.4(SH3TC2):c.*1942del rs886060183 0.00003
NM_024577.4(SH3TC2):c.*3411C>T rs886060178 0.00003
NM_024577.4(SH3TC2):c.*932T>A rs886060186 0.00003
NM_024577.4(SH3TC2):c.*9980_*9981insTATT rs1554119372 0.00003
NM_024577.4(SH3TC2):c.1342G>C (p.Asp448His) rs587781252 0.00003
NM_024577.4(SH3TC2):c.1654G>A (p.Glu552Lys) rs551953142 0.00003
NM_024577.4(SH3TC2):c.2056C>T (p.Pro686Ser) rs767415595 0.00003
NM_024577.4(SH3TC2):c.2107G>A (p.Gly703Arg) rs912282924 0.00003
NM_024577.4(SH3TC2):c.223C>T (p.Arg75Trp) rs769679412 0.00003
NM_024577.4(SH3TC2):c.2398C>T (p.Leu800Phe) rs764616291 0.00003
NM_024577.4(SH3TC2):c.2861G>A (p.Arg954Gln) rs776426059 0.00003
NM_024577.4(SH3TC2):c.908C>A (p.Pro303His) rs778572329 0.00003
NM_024577.4(SH3TC2):c.*5747C>T rs886060166 0.00002
NM_024577.4(SH3TC2):c.100G>A (p.Ala34Thr) rs1189763508 0.00002
NM_024577.4(SH3TC2):c.1096A>G (p.Thr366Ala) rs772832716 0.00002
NM_024577.4(SH3TC2):c.1129C>T (p.Arg377Trp) rs753775570 0.00002
NM_024577.4(SH3TC2):c.1178-3C>T rs1380474010 0.00002
NM_024577.4(SH3TC2):c.1254G>T (p.Gln418His) rs146997517 0.00002
NM_024577.4(SH3TC2):c.1390G>A (p.Ala464Thr) rs764054256 0.00002
NM_024577.4(SH3TC2):c.142A>G (p.Ile48Val) rs543440112 0.00002
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His) rs80338923 0.00002
NM_024577.4(SH3TC2):c.1843G>A (p.Val615Met) rs577783066 0.00002
NM_024577.4(SH3TC2):c.2096A>T (p.Gln699Leu) rs747615941 0.00002
NM_024577.4(SH3TC2):c.2578C>T (p.Leu860Phe) rs139958177 0.00002
NM_024577.4(SH3TC2):c.2671G>A (p.Ala891Thr) rs779223727 0.00002
NM_024577.4(SH3TC2):c.2873-3C>T rs749316605 0.00002
NM_024577.4(SH3TC2):c.2999A>C (p.Glu1000Ala) rs192187328 0.00002
NM_024577.4(SH3TC2):c.3103A>G (p.Ile1035Val) rs369953562 0.00002
NM_024577.4(SH3TC2):c.3190G>A (p.Glu1064Lys) rs756108498 0.00002
NM_024577.4(SH3TC2):c.320C>A (p.Ala107Asp) rs1371951870 0.00002
NM_024577.4(SH3TC2):c.3293C>T (p.Thr1098Ile) rs199514987 0.00002
NM_024577.4(SH3TC2):c.3457G>T (p.Ala1153Ser) rs778351829 0.00002
NM_024577.4(SH3TC2):c.3503C>T (p.Ala1168Val) rs372797350 0.00002
NM_024577.4(SH3TC2):c.3650G>A (p.Gly1217Asp) rs758669363 0.00002
NM_024577.4(SH3TC2):c.3683A>G (p.His1228Arg) rs1163101801 0.00002
NM_024577.4(SH3TC2):c.3722C>T (p.Ala1241Val) rs141712019 0.00002
NM_024577.4(SH3TC2):c.436C>T (p.Leu146Phe) rs755754277 0.00002
NM_024577.4(SH3TC2):c.892A>G (p.Ile298Val) rs746615255 0.00002
NM_024577.4(SH3TC2):c.*12469T>A rs886060122 0.00001
NM_024577.4(SH3TC2):c.1002-5T>A rs769711653 0.00001
NM_024577.4(SH3TC2):c.1006A>G (p.Arg336Gly) rs781032352 0.00001
NM_024577.4(SH3TC2):c.1130G>A (p.Arg377Gln) rs1450931349 0.00001
NM_024577.4(SH3TC2):c.1196T>A (p.Phe399Tyr) rs763564639 0.00001
NM_024577.4(SH3TC2):c.11G>T (p.Cys4Phe) rs562967549 0.00001
NM_024577.4(SH3TC2):c.1217G>T (p.Arg406Ile) rs761907624 0.00001
NM_024577.4(SH3TC2):c.1260C>A (p.Ser420Arg) rs766814812 0.00001
NM_024577.4(SH3TC2):c.1265C>T (p.Ser422Phe) rs754865697 0.00001
NM_024577.4(SH3TC2):c.1319G>A (p.Arg440His) rs755748579 0.00001
NM_024577.4(SH3TC2):c.1335T>G (p.Asp445Glu) rs1234203055 0.00001
NM_024577.4(SH3TC2):c.1355T>C (p.Leu452Pro) rs1235312791 0.00001
NM_024577.4(SH3TC2):c.1383G>T (p.Glu461Asp) rs1326032447 0.00001
NM_024577.4(SH3TC2):c.1436A>G (p.Tyr479Cys) rs757167683 0.00001
NM_024577.4(SH3TC2):c.1448T>G (p.Phe483Cys) rs751644174 0.00001
NM_024577.4(SH3TC2):c.1460A>G (p.Tyr487Cys) rs763417948 0.00001
NM_024577.4(SH3TC2):c.1468T>G (p.Ser490Ala) rs372841815 0.00001
NM_024577.4(SH3TC2):c.152-8T>A rs1350673664 0.00001
NM_024577.4(SH3TC2):c.1606C>T (p.Arg536Trp) rs777043032 0.00001
NM_024577.4(SH3TC2):c.1639G>A (p.Ala547Thr) rs1324539774 0.00001
NM_024577.4(SH3TC2):c.1651T>C (p.Phe551Leu) rs1554121720 0.00001
NM_024577.4(SH3TC2):c.1763G>T (p.Gly588Val) rs760899669 0.00001
NM_024577.4(SH3TC2):c.179G>A (p.Ser60Asn) rs1436597179 0.00001
NM_024577.4(SH3TC2):c.1832A>G (p.His611Arg) rs1252838387 0.00001
NM_024577.4(SH3TC2):c.1840G>A (p.Asp614Asn) rs201789838 0.00001
NM_024577.4(SH3TC2):c.1877T>C (p.Val626Ala) rs779061678 0.00001
NM_024577.4(SH3TC2):c.1889C>T (p.Pro630Leu) rs749260578 0.00001
NM_024577.4(SH3TC2):c.1915G>A (p.Ala639Thr) rs781671812 0.00001
NM_024577.4(SH3TC2):c.2039A>G (p.Tyr680Cys) rs763952745 0.00001
NM_024577.4(SH3TC2):c.2041G>T (p.Asp681Tyr) rs1329516289 0.00001
NM_024577.4(SH3TC2):c.2083C>G (p.Gln695Glu) rs770170997 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.224G>A (p.Arg75Gln) rs749772988 0.00001
NM_024577.4(SH3TC2):c.2256C>G (p.Asp752Glu) rs897500539 0.00001
NM_024577.4(SH3TC2):c.2305G>A (p.Glu769Lys) rs764436192 0.00001
NM_024577.4(SH3TC2):c.2309A>G (p.His770Arg) rs926165676 0.00001
NM_024577.4(SH3TC2):c.230G>A (p.Arg77Gln) rs756666549 0.00001
NM_024577.4(SH3TC2):c.2317C>T (p.Pro773Ser) rs1416387782 0.00001
NM_024577.4(SH3TC2):c.2352G>T (p.Leu784Phe) rs754938951 0.00001
NM_024577.4(SH3TC2):c.2407G>A (p.Ala803Thr) rs377434575 0.00001
NM_024577.4(SH3TC2):c.2470T>C (p.Cys824Arg) rs1554121601 0.00001
NM_024577.4(SH3TC2):c.2506G>A (p.Gly836Arg) rs768389060 0.00001
NM_024577.4(SH3TC2):c.2516A>G (p.Tyr839Cys) rs202139757 0.00001
NM_024577.4(SH3TC2):c.2528G>A (p.Gly843Glu) rs1463859150 0.00001
NM_024577.4(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930 0.00001
NM_024577.4(SH3TC2):c.2749A>G (p.Met917Val) rs1232735360 0.00001
NM_024577.4(SH3TC2):c.279+4A>G rs371909418 0.00001
NM_024577.4(SH3TC2):c.2894C>T (p.Ser965Phe) rs1220087441 0.00001
NM_024577.4(SH3TC2):c.2951A>G (p.His984Arg) rs978452363 0.00001
NM_024577.4(SH3TC2):c.3097A>G (p.Ile1033Val) rs794727104 0.00001
NM_024577.4(SH3TC2):c.3116A>C (p.Glu1039Ala) rs777209545 0.00001
NM_024577.4(SH3TC2):c.3149C>T (p.Ala1050Val) rs570067509 0.00001
NM_024577.4(SH3TC2):c.3157C>T (p.Leu1053Phe) rs772753479 0.00001
NM_024577.4(SH3TC2):c.3160C>T (p.His1054Tyr) rs769133498 0.00001
NM_024577.4(SH3TC2):c.3204+6C>T rs763394102 0.00001
NM_024577.4(SH3TC2):c.3211A>G (p.Ile1071Val) rs1753764548 0.00001
NM_024577.4(SH3TC2):c.3254A>G (p.Lys1085Arg) rs750149369 0.00001
NM_024577.4(SH3TC2):c.3283T>C (p.Phe1095Leu) rs1248817393 0.00001
NM_024577.4(SH3TC2):c.3286A>G (p.Asn1096Asp) rs1228973233 0.00001
NM_024577.4(SH3TC2):c.3308A>G (p.His1103Arg) rs780363659 0.00001
NM_024577.4(SH3TC2):c.3332G>T (p.Gly1111Val) rs200801053 0.00001
NM_024577.4(SH3TC2):c.3340C>G (p.Pro1114Ala) rs757935041 0.00001
NM_024577.4(SH3TC2):c.3374A>G (p.Glu1125Gly) rs1169028062 0.00001
NM_024577.4(SH3TC2):c.3409A>G (p.Ile1137Val) rs913598475 0.00001
NM_024577.4(SH3TC2):c.3526T>G (p.Tyr1176Asp) rs777028943 0.00001
NM_024577.4(SH3TC2):c.3682C>T (p.His1228Tyr) rs1371380897 0.00001
NM_024577.4(SH3TC2):c.3710C>T (p.Ala1237Val) rs778953792 0.00001
NM_024577.4(SH3TC2):c.3760A>G (p.Arg1254Gly) rs765921861 0.00001
NM_024577.4(SH3TC2):c.3761G>A (p.Arg1254Lys) rs1229941957 0.00001
NM_024577.4(SH3TC2):c.3818G>A (p.Cys1273Tyr) rs781625125 0.00001
NM_024577.4(SH3TC2):c.443G>A (p.Cys148Tyr) rs1483097983 0.00001
NM_024577.4(SH3TC2):c.450G>C (p.Leu150Phe) rs542260900 0.00001
NM_024577.4(SH3TC2):c.509T>G (p.Leu170Arg) rs1754392249 0.00001
NM_024577.4(SH3TC2):c.53-3C>T rs771541595 0.00001
NM_024577.4(SH3TC2):c.559G>A (p.Val187Met) rs745613768 0.00001
NM_024577.4(SH3TC2):c.56A>G (p.Lys19Arg) rs778863028 0.00001
NM_024577.4(SH3TC2):c.578A>G (p.Lys193Arg) rs569256459 0.00001
NM_024577.4(SH3TC2):c.596C>T (p.Thr199Ile) rs368872316 0.00001
NM_024577.4(SH3TC2):c.629T>C (p.Met210Thr) rs1472681520 0.00001
NM_024577.4(SH3TC2):c.635A>G (p.Glu212Gly) rs774120657 0.00001
NM_024577.4(SH3TC2):c.646G>A (p.Glu216Lys) rs867509336 0.00001
NM_024577.4(SH3TC2):c.657C>T (p.Gly219=) rs781321213 0.00001
NM_024577.4(SH3TC2):c.680G>A (p.Arg227Gln) rs1257812868 0.00001
NM_024577.4(SH3TC2):c.713T>G (p.Leu238Arg) rs1210345750 0.00001
NM_024577.4(SH3TC2):c.739C>G (p.Leu247Val) rs772820273 0.00001
NM_024577.4(SH3TC2):c.75T>A (p.Asp25Glu) rs755164059 0.00001
NM_024577.4(SH3TC2):c.815G>A (p.Arg272His) rs746737375 0.00001
NM_024577.4(SH3TC2):c.82G>C (p.Val28Leu) rs1399431033 0.00001
NM_024577.4(SH3TC2):c.880A>T (p.Ser294Cys) rs748663288 0.00001
NM_024577.4(SH3TC2):c.89G>A (p.Ser30Asn) rs765890403 0.00001
NM_024577.4(SH3TC2):c.904A>G (p.Ile302Val) rs745345448 0.00001
NM_024577.4(SH3TC2):c.924C>A (p.Phe308Leu) rs753884201 0.00001
NM_024577.4(SH3TC2):c.956G>T (p.Gly319Val) rs753423455 0.00001
NC_000005.9:g.(?_148384274)_(148442585_?)dup
NM_024577.4(SH3TC2):c.*10051ACCA[13] rs57301725
NM_024577.4(SH3TC2):c.*10051ACCA[14] rs57301725
NM_024577.4(SH3TC2):c.*10051ACCA[16] rs57301725
NM_024577.4(SH3TC2):c.*10111_*10114del rs777886659
NM_024577.4(SH3TC2):c.*12109_*12110dup rs35182601
NM_024577.4(SH3TC2):c.*12110dup rs35182601
NM_024577.4(SH3TC2):c.*12111_*12112insAA rs886060126
NM_024577.4(SH3TC2):c.*12114dup rs886060125
NM_024577.4(SH3TC2):c.*147A>T rs147796833
NM_024577.4(SH3TC2):c.*15311del rs886060114
NM_024577.4(SH3TC2):c.*16856CA[21] rs71957589
NM_024577.4(SH3TC2):c.*16856CA[22] rs71957589
NM_024577.4(SH3TC2):c.*16856CA[24] rs71957589
NM_024577.4(SH3TC2):c.*16856CA[26] rs71957589
NM_024577.4(SH3TC2):c.*18483dup rs536826583
NM_024577.4(SH3TC2):c.*1946_*1947del rs397883732
NM_024577.4(SH3TC2):c.*20919_*20920del rs886060096
NM_024577.4(SH3TC2):c.*2141C>T rs535223944
NM_024577.4(SH3TC2):c.*22552_*22553dup rs55932017
NM_024577.4(SH3TC2):c.*22553del rs55932017
NM_024577.4(SH3TC2):c.*4183T>C rs886060176
NM_024577.4(SH3TC2):c.*5279del rs573168274
NM_024577.4(SH3TC2):c.*5634C>A rs565468168
NM_024577.4(SH3TC2):c.*6563_*6564del rs368030230
NM_024577.4(SH3TC2):c.*6870ACA[1] rs567997802
NM_024577.4(SH3TC2):c.*7016ATATT[1] rs886060164
NM_024577.4(SH3TC2):c.*7189C>G rs886060163
NM_024577.4(SH3TC2):c.*839del rs886060189
NM_024577.4(SH3TC2):c.*8424CT[7] rs146811206
NM_024577.4(SH3TC2):c.*8424CT[9] rs146811206
NM_024577.4(SH3TC2):c.*862del rs886060188
NM_024577.4(SH3TC2):c.*862dup rs886060187
NM_024577.4(SH3TC2):c.*9121del rs886060149
NM_024577.4(SH3TC2):c.*9974ATCC[11] rs201323132
NM_024577.4(SH3TC2):c.*9974ATCC[14] rs201323132
NM_024577.4(SH3TC2):c.1000A>G (p.Met334Val) rs139653980
NM_024577.4(SH3TC2):c.1001+5G>T rs1754315788
NM_024577.4(SH3TC2):c.101C>A (p.Ala34Asp) rs1444603403
NM_024577.4(SH3TC2):c.1031A>G (p.Glu344Gly) rs753849885
NM_024577.4(SH3TC2):c.1040G>C (p.Cys347Ser) rs1271507097
NM_024577.4(SH3TC2):c.1057G>C (p.Gly353Arg) rs1299916015
NM_024577.4(SH3TC2):c.1061G>C (p.Ser354Thr)
NM_024577.4(SH3TC2):c.106T>C (p.Ser36Pro) rs1580917049
NM_024577.4(SH3TC2):c.1102G>A (p.Ala368Thr) rs2127398548
NM_024577.4(SH3TC2):c.1106G>T (p.Arg369Leu) rs551803988
NM_024577.4(SH3TC2):c.1135+3G>A
NM_024577.4(SH3TC2):c.1138G>A (p.Gly380Arg) rs761184149
NM_024577.4(SH3TC2):c.1152C>G (p.Ile384Met)
NM_024577.4(SH3TC2):c.1172T>C (p.Leu391Pro) rs141544031
NM_024577.4(SH3TC2):c.1177+5G>A rs1561765688
NM_024577.4(SH3TC2):c.1178-11T>C
NM_024577.4(SH3TC2):c.1178-8C>A rs202042438
NM_024577.4(SH3TC2):c.1184A>C (p.Gln395Pro)
NM_024577.4(SH3TC2):c.1190A>G (p.Glu397Gly)
NM_024577.4(SH3TC2):c.1193_1194delinsCC (p.Gly398Ala) rs2127397715
NM_024577.4(SH3TC2):c.1204G>C (p.Val402Leu) rs549821020
NM_024577.4(SH3TC2):c.1205T>C (p.Val402Ala)
NM_024577.4(SH3TC2):c.1209G>C (p.Arg403Ser) rs1212536660
NM_024577.4(SH3TC2):c.1211C>T (p.Pro404Leu) rs774001683
NM_024577.4(SH3TC2):c.1213G>T (p.Gly405Cys)
NM_024577.4(SH3TC2):c.1223G>T (p.Trp408Leu) rs777133915
NM_024577.4(SH3TC2):c.1228G>A (p.Glu410Lys) rs1309091718
NM_024577.4(SH3TC2):c.1233_1235dup (p.His411dup) rs886060198
NM_024577.4(SH3TC2):c.1244G>C (p.Gly415Ala) rs1561765509
NM_024577.4(SH3TC2):c.1244G>T (p.Gly415Val) rs1561765509
NM_024577.4(SH3TC2):c.1253A>C (p.Gln418Pro) rs1441405268
NM_024577.4(SH3TC2):c.1271A>C (p.Asp424Ala)
NM_024577.4(SH3TC2):c.1272C>G (p.Asp424Glu) rs377342074
NM_024577.4(SH3TC2):c.1273T>G (p.Ser425Ala) rs1469647354
NM_024577.4(SH3TC2):c.1297T>C (p.Ser433Pro)
NM_024577.4(SH3TC2):c.1300G>A (p.Ala434Thr) rs1368926236
NM_024577.4(SH3TC2):c.1306T>A (p.Ser436Thr) rs1754119445
NM_024577.4(SH3TC2):c.1311C>G (p.Asp437Glu) rs749587305
NM_024577.4(SH3TC2):c.1338C>A (p.Asp446Glu) rs1580901388
NM_024577.4(SH3TC2):c.1340T>C (p.Leu447Pro)
NM_024577.4(SH3TC2):c.1346A>G (p.Asp449Gly) rs1489505012
NM_024577.4(SH3TC2):c.1347C>A (p.Asp449Glu)
NM_024577.4(SH3TC2):c.1360A>G (p.Met454Val) rs1554121765
NM_024577.4(SH3TC2):c.1373C>A (p.Thr458Asn) rs1234062925
NM_024577.4(SH3TC2):c.1391C>T (p.Ala464Val)
NM_024577.4(SH3TC2):c.1401C>A (p.Phe467Leu) rs150950962
NM_024577.4(SH3TC2):c.1408A>G (p.Ile470Val) rs779447016
NM_024577.4(SH3TC2):c.1427A>G (p.His476Arg) rs1673272488
NM_024577.4(SH3TC2):c.142A>T (p.Ile48Phe) rs543440112
NM_024577.4(SH3TC2):c.1451A>T (p.Lys484Met)
NM_024577.4(SH3TC2):c.1463A>G (p.Asp488Gly) rs1416723910
NM_024577.4(SH3TC2):c.1468T>C (p.Ser490Pro) rs372841815
NM_024577.4(SH3TC2):c.1469_1471del (p.Ser490del) rs755728218
NM_024577.4(SH3TC2):c.1490C>T (p.Ser497Phe) rs768299505
NM_024577.4(SH3TC2):c.1504T>C (p.Ser502Pro) rs1754109858
NM_024577.4(SH3TC2):c.1531C>G (p.Leu511Val) rs1437440770
NM_024577.4(SH3TC2):c.1537G>T (p.Ala513Ser) rs1554121737
NM_024577.4(SH3TC2):c.1579C>T (p.His527Tyr)
NM_024577.4(SH3TC2):c.1589T>C (p.Leu530Pro)
NM_024577.4(SH3TC2):c.1597C>T (p.Leu533Phe) rs1554121725
NM_024577.4(SH3TC2):c.1603_1611del (p.Gly535_Leu537del)
NM_024577.4(SH3TC2):c.160C>T (p.Leu54Phe) rs759220976
NM_024577.4(SH3TC2):c.1619G>A (p.Arg540Lys)
NM_024577.4(SH3TC2):c.1627A>G (p.Lys543Glu) rs2127397529
NM_024577.4(SH3TC2):c.1654G>C (p.Glu552Gln) rs551953142
NM_024577.4(SH3TC2):c.165C>T (p.Ser55=)
NM_024577.4(SH3TC2):c.1689G>C (p.Glu563Asp)
NM_024577.4(SH3TC2):c.169T>G (p.Cys57Gly)
NM_024577.4(SH3TC2):c.172G>A (p.Val58Ile)
NM_024577.4(SH3TC2):c.1738C>A (p.Leu580Met) rs1561765207
NM_024577.4(SH3TC2):c.1754G>A (p.Arg585Lys) rs1754104023
NM_024577.4(SH3TC2):c.1798G>A (p.Ala600Thr)
NM_024577.4(SH3TC2):c.1823G>A (p.Ser608Asn)
NM_024577.4(SH3TC2):c.1837C>T (p.Leu613Phe)
NM_024577.4(SH3TC2):c.1840G>T (p.Asp614Tyr) rs201789838
NM_024577.4(SH3TC2):c.1849G>A (p.Ala617Thr)
NM_024577.4(SH3TC2):c.1856T>A (p.Val619Glu) rs1196218767
NM_024577.4(SH3TC2):c.1869G>T (p.Gly623=) rs1219611610
NM_024577.4(SH3TC2):c.1876G>T (p.Val626Leu) rs1311201400
NM_024577.4(SH3TC2):c.187A>G (p.Arg63Gly)
NM_024577.4(SH3TC2):c.1880G>A (p.Gly627Asp) rs1380546665
NM_024577.4(SH3TC2):c.1894G>A (p.Glu632Lys) rs1580900765
NM_024577.4(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_024577.4(SH3TC2):c.191G>A (p.Arg64Lys)
NM_024577.4(SH3TC2):c.1922G>T (p.Arg641Leu) rs199991156
NM_024577.4(SH3TC2):c.1941C>T (p.Gly647=)
NM_024577.4(SH3TC2):c.1948G>A (p.Glu650Lys)
NM_024577.4(SH3TC2):c.1960C>T (p.Pro654Ser) rs1754098320
NM_024577.4(SH3TC2):c.1988C>G (p.Ser663Cys) rs1754097515
NM_024577.4(SH3TC2):c.200A>G (p.Asn67Ser) rs772378888
NM_024577.4(SH3TC2):c.2015T>C (p.Val672Ala) rs1754096756
NM_024577.4(SH3TC2):c.2027T>C (p.Leu676Ser)
NM_024577.4(SH3TC2):c.2051A>G (p.Tyr684Cys)
NM_024577.4(SH3TC2):c.2060A>G (p.His687Arg) rs1171441665
NM_024577.4(SH3TC2):c.2062C>A (p.Leu688Ile) rs773433720
NM_024577.4(SH3TC2):c.2089G>A (p.Gly697Ser)
NM_024577.4(SH3TC2):c.2090G>T (p.Gly697Val) rs2127397326
NM_024577.4(SH3TC2):c.2116C>A (p.Leu706Ile) rs1317532477
NM_024577.4(SH3TC2):c.2198C>A (p.Ser733Tyr) rs2127397284
NM_024577.4(SH3TC2):c.21C>G (p.Ile7Met)
NM_024577.4(SH3TC2):c.2201C>T (p.Ala734Val)
NM_024577.4(SH3TC2):c.2218C>T (p.Leu740Phe) rs2127397272
NM_024577.4(SH3TC2):c.2230C>G (p.Leu744Val) rs962648069
NM_024577.4(SH3TC2):c.2263A>C (p.Thr755Pro) rs1332446150
NM_024577.4(SH3TC2):c.2275C>A (p.Leu759Met) rs1754090424
NM_024577.4(SH3TC2):c.227G>C (p.Arg76Thr) rs1754493155
NM_024577.4(SH3TC2):c.2285T>C (p.Ile762Thr) rs751351645
NM_024577.4(SH3TC2):c.2288T>C (p.Leu763Pro) rs1580900331
NM_024577.4(SH3TC2):c.2297T>C (p.Val766Ala)
NM_024577.4(SH3TC2):c.2299T>C (p.Tyr767His) rs2127397225
NM_024577.4(SH3TC2):c.2302C>T (p.Leu768Phe)
NM_024577.4(SH3TC2):c.2311A>G (p.Arg771Gly) rs1754089250
NM_024577.4(SH3TC2):c.2362C>A (p.Gln788Lys)
NM_024577.4(SH3TC2):c.2386T>C (p.Phe796Leu)
NM_024577.4(SH3TC2):c.2398C>G (p.Leu800Val)
NM_024577.4(SH3TC2):c.239C>A (p.Ala80Glu)
NM_024577.4(SH3TC2):c.2410T>G (p.Trp804Gly)
NM_024577.4(SH3TC2):c.2411G>C (p.Trp804Ser)
NM_024577.4(SH3TC2):c.2414C>T (p.Ala805Val)
NM_024577.4(SH3TC2):c.2429G>A (p.Ser810Asn)
NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His) rs746538256
NM_024577.4(SH3TC2):c.2458G>A (p.Glu820Lys) rs1754083548
NM_024577.4(SH3TC2):c.2534C>T (p.Ala845Val)
NM_024577.4(SH3TC2):c.2549G>C (p.Gly850Ala) rs749133472
NM_024577.4(SH3TC2):c.2551C>G (p.Arg851Gly)
NM_024577.4(SH3TC2):c.2551_2552delinsAA (p.Arg851Lys)
NM_024577.4(SH3TC2):c.2555T>G (p.Val852Gly)
NM_024577.4(SH3TC2):c.2576A>G (p.Tyr859Cys)
NM_024577.4(SH3TC2):c.2578C>G (p.Leu860Val) rs139958177
NM_024577.4(SH3TC2):c.2582G>C (p.Arg861Pro) rs142971473
NM_024577.4(SH3TC2):c.2600A>T (p.Gln867Leu)
NM_024577.4(SH3TC2):c.2609G>A (p.Gly870Glu) rs1754079774
NM_024577.4(SH3TC2):c.2615T>C (p.Val872Ala)
NM_024577.4(SH3TC2):c.2664G>T (p.Lys888Asn)
NM_024577.4(SH3TC2):c.266G>T (p.Arg89Leu) rs189591944
NM_024577.4(SH3TC2):c.2717A>G (p.Tyr906Cys)
NM_024577.4(SH3TC2):c.2738A>G (p.Lys913Arg) rs2127397025
NM_024577.4(SH3TC2):c.2744C>T (p.Thr915Ile) rs1754076431
NM_024577.4(SH3TC2):c.275T>C (p.Phe92Ser) rs2127402247
NM_024577.4(SH3TC2):c.2780C>T (p.Ala927Val) rs1754076016
NM_024577.4(SH3TC2):c.2785G>C (p.Val929Leu) rs2127397007
NM_024577.4(SH3TC2):c.280-3T>C
NM_024577.4(SH3TC2):c.2818C>T (p.Leu940Phe) rs1380115510
NM_024577.4(SH3TC2):c.282C>G (p.Asp94Glu) rs1453743523
NM_024577.4(SH3TC2):c.2833A>G (p.Met945Val)
NM_024577.4(SH3TC2):c.2836G>T (p.Ala946Ser) rs765951062
NM_024577.4(SH3TC2):c.283C>T (p.Leu95Phe) rs541695222
NM_024577.4(SH3TC2):c.2859T>A (p.His953Gln)
NM_024577.4(SH3TC2):c.2864A>C (p.His955Pro) rs1754073175
NM_024577.4(SH3TC2):c.2864A>T (p.His955Leu)
NM_024577.4(SH3TC2):c.2872+4_2872+7del rs1754073023
NM_024577.4(SH3TC2):c.2873G>A (p.Ser958Asn) rs1205847384
NM_024577.4(SH3TC2):c.2884G>C (p.Ala962Pro)
NM_024577.4(SH3TC2):c.2887A>G (p.Thr963Ala)
NM_024577.4(SH3TC2):c.2888C>T (p.Thr963Ile)
NM_024577.4(SH3TC2):c.2897T>C (p.Leu966Pro) rs1060501469
NM_024577.4(SH3TC2):c.2909A>G (p.Tyr970Cys)
NM_024577.4(SH3TC2):c.2923C>G (p.Pro975Ala) rs1554121529
NM_024577.4(SH3TC2):c.2935G>T (p.Ala979Ser) rs369258246
NM_024577.4(SH3TC2):c.2942_2944dup (p.Ile981dup) rs2127396888
NM_024577.4(SH3TC2):c.2957A>G (p.His986Arg) rs1580899530
NM_024577.4(SH3TC2):c.295T>A (p.Leu99Met) rs1561770787
NM_024577.4(SH3TC2):c.2965G>A (p.Ala989Thr)
NM_024577.4(SH3TC2):c.2981T>C (p.Leu994Pro) rs2127396874
NM_024577.4(SH3TC2):c.2995A>G (p.Met999Val)
NM_024577.4(SH3TC2):c.3006G>T (p.Arg1002Ser)
NM_024577.4(SH3TC2):c.3023G>C (p.Gly1008Ala) rs2127396858
NM_024577.4(SH3TC2):c.3028C>T (p.Leu1010Phe) rs1243271992
NM_024577.4(SH3TC2):c.304A>G (p.Ile102Val) rs2127401449
NM_024577.4(SH3TC2):c.3053+11G>T
NM_024577.4(SH3TC2):c.308A>T (p.Gln103Leu)
NM_024577.4(SH3TC2):c.3099C>G (p.Ile1033Met) rs1554120576
NM_024577.4(SH3TC2):c.30G>T (p.Glu10Asp) rs755666455
NM_024577.4(SH3TC2):c.3110T>A (p.Leu1037Gln) rs1580891410
NM_024577.4(SH3TC2):c.3117G>C (p.Glu1039Asp)
NM_024577.4(SH3TC2):c.311C>G (p.Ser104Cys)
NM_024577.4(SH3TC2):c.3146G>T (p.Gly1049Val) rs2127393379
NM_024577.4(SH3TC2):c.3155G>A (p.Arg1052Gln)
NM_024577.4(SH3TC2):c.315G>C (p.Gln105His) rs1754426829
NM_024577.4(SH3TC2):c.3175G>A (p.Glu1059Lys)
NM_024577.4(SH3TC2):c.3181G>A (p.Glu1061Lys) rs760656119
NM_024577.4(SH3TC2):c.3212T>C (p.Ile1071Thr)
NM_024577.4(SH3TC2):c.322_324del (p.Gln108del)
NM_024577.4(SH3TC2):c.3269C>G (p.Ala1090Gly)
NM_024577.4(SH3TC2):c.3277G>A (p.Val1093Met) rs2127392867
NM_024577.4(SH3TC2):c.3316G>A (p.Glu1106Lys)
NM_024577.4(SH3TC2):c.3327+6T>G
NM_024577.4(SH3TC2):c.3362C>A (p.Ala1121Glu) rs115577291
NM_024577.4(SH3TC2):c.3364G>A (p.Val1122Met) rs1554120326
NM_024577.4(SH3TC2):c.3371C>T (p.Thr1124Ile) rs752094727
NM_024577.4(SH3TC2):c.3379C>T (p.Arg1127Trp) rs1580888993
NM_024577.4(SH3TC2):c.3386T>C (p.Phe1129Ser)
NM_024577.4(SH3TC2):c.3418G>A (p.Glu1140Lys)
NM_024577.4(SH3TC2):c.3433G>T (p.Ala1145Ser) rs141715248
NM_024577.4(SH3TC2):c.343A>C (p.Thr115Pro)
NM_024577.4(SH3TC2):c.3443T>C (p.Phe1148Ser) rs1753736056
NM_024577.4(SH3TC2):c.3457G>A (p.Ala1153Thr) rs778351829
NM_024577.4(SH3TC2):c.3478+4G>A
NM_024577.4(SH3TC2):c.3491A>T (p.Gln1164Leu)
NM_024577.4(SH3TC2):c.3500T>G (p.Val1167Gly) rs2127392009
NM_024577.4(SH3TC2):c.3512G>A (p.Arg1171His) rs200728983
NM_024577.4(SH3TC2):c.3512G>C (p.Arg1171Pro) rs200728983
NM_024577.4(SH3TC2):c.3543G>A (p.Met1181Ile)
NM_024577.4(SH3TC2):c.3589C>T (p.Pro1197Ser) rs1343590454
NM_024577.4(SH3TC2):c.3592C>T (p.Pro1198Ser) rs1561756981
NM_024577.4(SH3TC2):c.3593_3594inv (p.Pro1198Leu)
NM_024577.4(SH3TC2):c.3602A>T (p.Gln1201Leu) rs776962303
NM_024577.4(SH3TC2):c.3607C>A (p.Pro1203Thr)
NM_024577.4(SH3TC2):c.3613G>A (p.Glu1205Lys) rs926087682
NM_024577.4(SH3TC2):c.3617C>A (p.Ala1206Asp) rs1753699992
NM_024577.4(SH3TC2):c.362A>C (p.Lys121Thr) rs1580912012
NM_024577.4(SH3TC2):c.362A>T (p.Lys121Met) rs1580912012
NM_024577.4(SH3TC2):c.3634G>A (p.Val1212Met) rs756174696
NM_024577.4(SH3TC2):c.3643C>T (p.Arg1215Cys) rs267600481
NM_024577.4(SH3TC2):c.3650del (p.Gly1217fs) rs369695480
NM_024577.4(SH3TC2):c.3667C>G (p.Gln1223Glu)
NM_024577.4(SH3TC2):c.3676-1G>A rs1306229414
NM_024577.4(SH3TC2):c.367T>C (p.Ser123Pro)
NM_024577.4(SH3TC2):c.3684T>A (p.His1228Gln) rs1753659994
NM_024577.4(SH3TC2):c.3688G>A (p.Ala1230Thr)
NM_024577.4(SH3TC2):c.3728T>C (p.Leu1243Pro)
NM_024577.4(SH3TC2):c.3768G>T (p.Arg1256Ser)
NM_024577.4(SH3TC2):c.3779T>G (p.Ile1260Ser) rs1753657850
NM_024577.4(SH3TC2):c.3784C>G (p.Gln1262Glu)
NM_024577.4(SH3TC2):c.3789C>A (p.Ser1263Arg) rs1210794926
NM_024577.4(SH3TC2):c.3790C>G (p.Pro1264Ala) rs945895550
NM_024577.4(SH3TC2):c.3791C>G (p.Pro1264Arg) rs1753657395
NM_024577.4(SH3TC2):c.3805A>T (p.Arg1269Trp) rs1753656892
NM_024577.4(SH3TC2):c.3806G>C (p.Arg1269Thr)
NM_024577.4(SH3TC2):c.3807G>T (p.Arg1269Ser) rs370090569
NM_024577.4(SH3TC2):c.3846TGG[2] (p.Gly1285del) rs1554120043
NM_024577.4(SH3TC2):c.3847G>T (p.Gly1283Cys) rs370844006
NM_024577.4(SH3TC2):c.3851G>A (p.Gly1284Asp) rs771840516
NM_024577.4(SH3TC2):c.407A>G (p.Glu136Gly)
NM_024577.4(SH3TC2):c.412CTC[1] (p.Leu139del)
NM_024577.4(SH3TC2):c.425A>G (p.His142Arg) rs1168407927
NM_024577.4(SH3TC2):c.437T>C (p.Leu146Pro) rs2127400975
NM_024577.4(SH3TC2):c.439A>G (p.Asn147Asp) rs1423301895
NM_024577.4(SH3TC2):c.43C>T (p.Arg15Trp)
NM_024577.4(SH3TC2):c.440A>G (p.Asn147Ser)
NM_024577.4(SH3TC2):c.452T>C (p.Val151Ala) rs779715536
NM_024577.4(SH3TC2):c.46G>A (p.Gly16Ser) rs753975938
NM_024577.4(SH3TC2):c.483T>A (p.Asp161Glu) rs768029461
NM_024577.4(SH3TC2):c.4G>A (p.Gly2Ser) rs1554124107
NM_024577.4(SH3TC2):c.508C>G (p.Leu170Val) rs2127400948
NM_024577.4(SH3TC2):c.515T>G (p.Leu172Arg) rs1408319932
NM_024577.4(SH3TC2):c.53-5_53-3del
NM_024577.4(SH3TC2):c.530G>A (p.Gly177Asp)
NM_024577.4(SH3TC2):c.535T>G (p.Phe179Val)
NM_024577.4(SH3TC2):c.536TCT[1] (p.Phe180del) rs763476083
NM_024577.4(SH3TC2):c.538T>G (p.Phe180Val)
NM_024577.4(SH3TC2):c.560T>C (p.Val187Ala) rs1554122762
NM_024577.4(SH3TC2):c.566C>T (p.Pro189Leu)
NM_024577.4(SH3TC2):c.571G>C (p.Ala191Pro) rs2127400685
NM_024577.4(SH3TC2):c.581A>G (p.Glu194Gly)
NM_024577.4(SH3TC2):c.588A>T (p.Glu196Asp)
NM_024577.4(SH3TC2):c.601T>G (p.Cys201Gly)
NM_024577.4(SH3TC2):c.602G>A (p.Cys201Tyr)
NM_024577.4(SH3TC2):c.609T>G (p.Asn203Lys) rs1754371704
NM_024577.4(SH3TC2):c.641G>A (p.Gly214Asp)
NM_024577.4(SH3TC2):c.643T>C (p.Ser215Pro)
NM_024577.4(SH3TC2):c.64C>G (p.Pro22Ala)
NM_024577.4(SH3TC2):c.650T>C (p.Leu217Ser)
NM_024577.4(SH3TC2):c.656G>A (p.Gly219Asp) rs748374150
NM_024577.4(SH3TC2):c.656G>T (p.Gly219Val)
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.682G>A (p.Gly228Ser) rs751022040
NM_024577.4(SH3TC2):c.731+4A>G
NM_024577.4(SH3TC2):c.734G>T (p.Trp245Leu) rs751095271
NM_024577.4(SH3TC2):c.746A>G (p.Asn249Ser) rs760971566
NM_024577.4(SH3TC2):c.758G>C (p.Ser253Thr) rs2127400485
NM_024577.4(SH3TC2):c.766C>T (p.Leu256Phe)
NM_024577.4(SH3TC2):c.788C>A (p.Thr263Lys)
NM_024577.4(SH3TC2):c.790G>C (p.Gly264Arg)
NM_024577.4(SH3TC2):c.793T>A (p.Ser265Thr) rs1580909284
NM_024577.4(SH3TC2):c.826T>A (p.Leu276Met) rs1580908028
NM_024577.4(SH3TC2):c.828G>C (p.Leu276Phe) rs1754319874
NM_024577.4(SH3TC2):c.832G>A (p.Gly278Ser) rs1204913371
NM_024577.4(SH3TC2):c.833G>T (p.Gly278Val) rs757292503
NM_024577.4(SH3TC2):c.841C>A (p.Pro281Thr)
NM_024577.4(SH3TC2):c.852G>C (p.Lys284Asn)
NM_024577.4(SH3TC2):c.854A>G (p.Asp285Gly) rs763037689
NM_024577.4(SH3TC2):c.856G>A (p.Glu286Lys) rs2127400005
NM_024577.4(SH3TC2):c.895G>A (p.Gly299Ser) rs1233598157
NM_024577.4(SH3TC2):c.8G>A (p.Gly3Asp) rs1465198831
NM_024577.4(SH3TC2):c.902T>C (p.Val301Ala) rs1754317882
NM_024577.4(SH3TC2):c.910G>A (p.Gly304Arg) rs1754317705
NM_024577.4(SH3TC2):c.926T>C (p.Ile309Thr) rs1754317366
NM_024577.4(SH3TC2):c.947G>A (p.Gly316Glu) rs1251082752
NM_024577.4(SH3TC2):c.977T>C (p.Ile326Thr) rs1754316407
NM_024577.4(SH3TC2):c.995C>A (p.Ser332Tyr)

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