ClinVar Miner

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

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Gene type:
ClinVar version:
Total variants: 220
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HGVS dbSNP
NM_024577.3(SH3TC2):c.*10010_*10013dupATCC rs201323132
NM_024577.3(SH3TC2):c.*10103_*10110delACCAACCA rs57301725
NM_024577.3(SH3TC2):c.*10107_*10110delACCA rs57301725
NM_024577.3(SH3TC2):c.*10107_*10110dupACCA rs57301725
NM_024577.3(SH3TC2):c.*10111_*10114del rs777886659
NM_024577.3(SH3TC2):c.*12088_*12091del rs886060127
NM_024577.3(SH3TC2):c.*12109_*12110dup rs35182601
NM_024577.3(SH3TC2):c.*12110dup rs35182601
NM_024577.3(SH3TC2):c.*12111_*12112insAA rs886060126
NM_024577.3(SH3TC2):c.*12114dup rs886060125
NM_024577.3(SH3TC2):c.*12469T>A rs886060122
NM_024577.3(SH3TC2):c.*147A>T rs147796833
NM_024577.3(SH3TC2):c.*15311del rs886060114
NM_024577.3(SH3TC2):c.*16896_*16901dupCACACA rs71957589
NM_024577.3(SH3TC2):c.*16898_*16901delCACA rs71957589
NM_024577.3(SH3TC2):c.*16900_*16901delCA rs71957589
NM_024577.3(SH3TC2):c.*16900_*16901dupCA rs71957589
NM_024577.3(SH3TC2):c.*18483dup rs536826583
NM_024577.3(SH3TC2):c.*1942del rs886060183
NM_024577.3(SH3TC2):c.*1946_*1947del rs397883732
NM_024577.3(SH3TC2):c.*19563_*19564dup rs5872105
NM_024577.3(SH3TC2):c.*19989G>A rs560779315
NM_024577.3(SH3TC2):c.*20919_*20920del rs886060096
NM_024577.3(SH3TC2):c.*21395T>C rs886060094
NM_024577.3(SH3TC2):c.*2141C>T rs535223944
NM_024577.3(SH3TC2):c.*22552_*22553dup rs55932017
NM_024577.3(SH3TC2):c.*22553del rs55932017
NM_024577.3(SH3TC2):c.*3411C>T rs886060178
NM_024577.3(SH3TC2):c.*4183T>C rs886060176
NM_024577.3(SH3TC2):c.*5279del rs573168274
NM_024577.3(SH3TC2):c.*5634C>A rs565468168
NM_024577.3(SH3TC2):c.*5747C>T rs886060166
NM_024577.3(SH3TC2):c.*6563_*6564del rs368030230
NM_024577.3(SH3TC2):c.*6873_*6875delACA rs567997802
NM_024577.3(SH3TC2):c.*7021_*7025delATATT rs886060164
NM_024577.3(SH3TC2):c.*7189C>G rs886060163
NM_024577.3(SH3TC2):c.*7269A>G rs763490898
NM_024577.3(SH3TC2):c.*839del rs886060189
NM_024577.3(SH3TC2):c.*8438_*8439delCT rs146811206
NM_024577.3(SH3TC2):c.*8438_*8439dupCT rs146811206
NM_024577.3(SH3TC2):c.*862del rs886060188
NM_024577.3(SH3TC2):c.*862dup rs886060187
NM_024577.3(SH3TC2):c.*9121del rs886060149
NM_024577.3(SH3TC2):c.*932T>A rs886060186
NM_024577.3(SH3TC2):c.*9969_*9972del rs113518050
NM_024577.3(SH3TC2):c.*9974_*9977ATCC[14] rs201323132
NM_024577.3(SH3TC2):c.*9980_*9981insTATT rs1554119372
NM_024577.3(SH3TC2):c.1002-5T>A rs769711653
NM_024577.3(SH3TC2):c.101C>A (p.Ala34Asp) rs1444603403
NM_024577.3(SH3TC2):c.1031A>G (p.Glu344Gly) rs753849885
NM_024577.3(SH3TC2):c.1040G>C (p.Cys347Ser) rs1271507097
NM_024577.3(SH3TC2):c.106T>C (p.Ser36Pro) rs1580917049
NM_024577.3(SH3TC2):c.1105C>T (p.Arg369Cys) rs569974719
NM_024577.3(SH3TC2):c.1172T>G (p.Leu391Arg) rs141544031
NM_024577.3(SH3TC2):c.1177+5G>A rs1561765688
NM_024577.3(SH3TC2):c.11G>T (p.Cys4Phe) rs562967549
NM_024577.3(SH3TC2):c.1233_1235dup (p.His411dup) rs886060198
NM_024577.3(SH3TC2):c.1240G>A (p.Val414Met) rs138303846
NM_024577.3(SH3TC2):c.1244G>T (p.Gly415Val) rs1561765509
NM_024577.3(SH3TC2):c.1260C>A (p.Ser420Arg) rs766814812
NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041
NM_024577.3(SH3TC2):c.1318C>T (p.Arg440Cys) rs768012192
NM_024577.3(SH3TC2):c.1319G>A (p.Arg440His) rs755748579
NM_024577.3(SH3TC2):c.1325C>T (p.Pro442Leu) rs370613184
NM_024577.3(SH3TC2):c.1326G>A (p.Pro442=) rs138967360
NM_024577.3(SH3TC2):c.1338C>A (p.Asp446Glu) rs1580901388
NM_024577.3(SH3TC2):c.1342G>C (p.Asp448His) rs587781252
NM_024577.3(SH3TC2):c.1355T>C (p.Leu452Pro) rs1235312791
NM_024577.3(SH3TC2):c.1360A>G (p.Met454Val) rs1554121765
NM_024577.3(SH3TC2):c.1401C>A (p.Phe467Leu) rs150950962
NM_024577.3(SH3TC2):c.1431G>A (p.Glu477=) rs887057321
NM_024577.3(SH3TC2):c.1469_1471del (p.Ser490del) rs755728218
NM_024577.3(SH3TC2):c.1522G>A (p.Val508Met) rs148155691
NM_024577.3(SH3TC2):c.1537G>T (p.Ala513Ser) rs1554121737
NM_024577.3(SH3TC2):c.1585C>T (p.Arg529Cys) rs750529207
NM_024577.3(SH3TC2):c.1586G>A (p.Arg529His) rs80338923
NM_024577.3(SH3TC2):c.1597C>T (p.Leu533Phe) rs1554121725
NM_024577.3(SH3TC2):c.1607G>A (p.Arg536Gln) rs369977771
NM_024577.3(SH3TC2):c.164C>T (p.Ser55Phe) rs201291203
NM_024577.3(SH3TC2):c.1654G>A (p.Glu552Lys) rs551953142
NM_024577.3(SH3TC2):c.1654G>C (p.Glu552Gln) rs551953142
NM_024577.3(SH3TC2):c.1721A>G (p.Asn574Ser) rs201256776
NM_024577.3(SH3TC2):c.1738C>A (p.Leu580Met) rs1561765207
NM_024577.3(SH3TC2):c.1768G>A (p.Ala590Thr) rs149244124
NM_024577.3(SH3TC2):c.181C>T (p.Arg61Cys)
NM_024577.3(SH3TC2):c.1840G>A (p.Asp614Asn) rs201789838
NM_024577.3(SH3TC2):c.1843G>A (p.Val615Met) rs577783066
NM_024577.3(SH3TC2):c.1861C>T (p.Arg621Cys) rs201403149
NM_024577.3(SH3TC2):c.1897del (p.Ala633fs) rs1064797314
NM_024577.3(SH3TC2):c.1922G>A (p.Arg641His) rs199991156
NM_024577.3(SH3TC2):c.1973G>A (p.Arg658His) rs138040787
NM_024577.3(SH3TC2):c.200A>G (p.Asn67Ser) rs772378888
NM_024577.3(SH3TC2):c.2017G>A (p.Ala673Thr) rs201985394
NM_024577.3(SH3TC2):c.2023G>A (p.Val675Ile) rs764633604
NM_024577.3(SH3TC2):c.2056C>T (p.Pro686Ser) rs767415595
NM_024577.3(SH3TC2):c.2215A>G (p.Met739Val) rs146707871
NM_024577.3(SH3TC2):c.224G>A (p.Arg75Gln) rs749772988
NM_024577.3(SH3TC2):c.2257C>T (p.Arg753Trp) rs530824367
NM_024577.3(SH3TC2):c.2258G>A (p.Arg753Gln) rs755570739
NM_024577.3(SH3TC2):c.2263A>C (p.Thr755Pro) rs1332446150
NM_024577.3(SH3TC2):c.2273C>A (p.Ala758Asp) rs200006756
NM_024577.3(SH3TC2):c.2285T>C (p.Ile762Thr) rs751351645
NM_024577.3(SH3TC2):c.2288T>C (p.Leu763Pro) rs1580900331
NM_024577.3(SH3TC2):c.2305G>A (p.Glu769Lys) rs764436192
NM_024577.3(SH3TC2):c.2306A>G (p.Glu769Gly) rs151317042
NM_024577.3(SH3TC2):c.2348C>T (p.Ala783Val) rs377372640
NM_024577.3(SH3TC2):c.2398C>T (p.Leu800Phe) rs764616291
NM_024577.3(SH3TC2):c.2407G>A (p.Ala803Thr) rs377434575
NM_024577.3(SH3TC2):c.2470T>C (p.Cys824Arg) rs1554121601
NM_024577.3(SH3TC2):c.2492G>A (p.Ser831Asn) rs375034766
NM_024577.3(SH3TC2):c.2528G>A (p.Gly843Glu) rs1463859150
NM_024577.3(SH3TC2):c.2528G>T (p.Gly843Val) rs1463859150
NM_024577.3(SH3TC2):c.2549G>C (p.Gly850Ala) rs749133472
NM_024577.3(SH3TC2):c.2551C>T (p.Arg851Trp) rs144655516
NM_024577.3(SH3TC2):c.2552G>A (p.Arg851Gln) rs751621364
NM_024577.3(SH3TC2):c.2578C>T (p.Leu860Phe) rs139958177
NM_024577.3(SH3TC2):c.257A>G (p.Gln86Arg) rs138429238
NM_024577.3(SH3TC2):c.2582G>A (p.Arg861Gln) rs142971473
NM_024577.3(SH3TC2):c.2582G>C (p.Arg861Pro) rs142971473
NM_024577.3(SH3TC2):c.259G>C (p.Glu87Gln) rs947749200
NM_024577.3(SH3TC2):c.2642A>G (p.Asn881Ser) rs80338930
NM_024577.3(SH3TC2):c.2671G>A (p.Ala891Thr) rs779223727
NM_024577.3(SH3TC2):c.279+4A>G rs371909418
NM_024577.3(SH3TC2):c.2812C>T (p.His938Tyr) rs144688852
NM_024577.3(SH3TC2):c.2897T>C (p.Leu966Pro) rs1060501469
NM_024577.3(SH3TC2):c.289G>A (p.Ala97Thr) rs562689036
NM_024577.3(SH3TC2):c.2935G>T (p.Ala979Ser) rs369258246
NM_024577.3(SH3TC2):c.2954A>G (p.Glu985Gly) rs575937427
NM_024577.3(SH3TC2):c.2957A>G (p.His986Arg) rs1580899530
NM_024577.3(SH3TC2):c.2989C>T (p.Arg997Trp) rs763331671
NM_024577.3(SH3TC2):c.2990G>A (p.Arg997Gln) rs140307699
NM_024577.3(SH3TC2):c.3013G>A (p.Glu1005Lys) rs147895061
NM_024577.3(SH3TC2):c.3034C>T (p.Arg1012Trp) rs541197556
NM_024577.3(SH3TC2):c.3039C>A (p.Asn1013Lys) rs753381949
NM_024577.3(SH3TC2):c.3049G>A (p.Ala1017Thr) rs186029710
NM_024577.3(SH3TC2):c.3077G>A (p.Cys1026Tyr) rs367656036
NM_024577.3(SH3TC2):c.3094C>T (p.Arg1032Cys) rs375603885
NM_024577.3(SH3TC2):c.3099C>G (p.Ile1033Met) rs1554120576
NM_024577.3(SH3TC2):c.3110T>A (p.Leu1037Gln) rs1580891410
NM_024577.3(SH3TC2):c.3149C>T (p.Ala1050Val) rs570067509
NM_024577.3(SH3TC2):c.3150G>A (p.Ala1050=) rs768044718
NM_024577.3(SH3TC2):c.3157C>T (p.Leu1053Phe) rs772753479
NM_024577.3(SH3TC2):c.3160C>T (p.His1054Tyr) rs769133498
NM_024577.3(SH3TC2):c.3166C>T (p.Leu1056Phe) rs201805333
NM_024577.3(SH3TC2):c.31C>T (p.Arg11Trp) rs149762843
NM_024577.3(SH3TC2):c.3283T>C (p.Phe1095Leu) rs1248817393
NM_024577.3(SH3TC2):c.3293C>T (p.Thr1098Ile) rs199514987
NM_024577.3(SH3TC2):c.32G>A (p.Arg11Gln) rs558800325
NM_024577.3(SH3TC2):c.3332G>T (p.Gly1111Val) rs200801053
NM_024577.3(SH3TC2):c.3364G>A (p.Val1122Met) rs1554120326
NM_024577.3(SH3TC2):c.3371C>T (p.Thr1124Ile) rs752094727
NM_024577.3(SH3TC2):c.3379C>T (p.Arg1127Trp) rs1580888993
NM_024577.3(SH3TC2):c.3413G>A (p.Ser1138Asn) rs150805608
NM_024577.3(SH3TC2):c.3511C>T (p.Arg1171Cys) rs759785462
NM_024577.3(SH3TC2):c.3512G>C (p.Arg1171Pro) rs200728983
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.3610A>G (p.Lys1204Glu) rs571409696
NM_024577.3(SH3TC2):c.3611A>G (p.Lys1204Arg) rs143436632
NM_024577.3(SH3TC2):c.362A>T (p.Lys121Met) rs1580912012
NM_024577.3(SH3TC2):c.3757A>G (p.Ile1253Val) rs147931490
NM_024577.3(SH3TC2):c.3833C>T (p.Ala1278Val) rs374516818
NM_024577.3(SH3TC2):c.3835C>T (p.Arg1279Trp) rs536334280
NM_024577.3(SH3TC2):c.3836G>A (p.Arg1279Gln) rs142774907
NM_024577.3(SH3TC2):c.3847G>C (p.Gly1283Arg) rs370844006
NM_024577.3(SH3TC2):c.3847G>T (p.Gly1283Cys) rs370844006
NM_024577.3(SH3TC2):c.385+3A>G rs184593694
NM_024577.3(SH3TC2):c.3852_3854delTGG rs1554120043
NM_024577.3(SH3TC2):c.425A>G (p.His142Arg) rs1168407927
NM_024577.3(SH3TC2):c.46G>A (p.Gly16Ser) rs753975938
NM_024577.3(SH3TC2):c.4G>A (p.Gly2Ser) rs1554124107
NM_024577.3(SH3TC2):c.517C>A (p.Leu173Met) rs147633804
NM_024577.3(SH3TC2):c.559G>A (p.Val187Met) rs745613768
NM_024577.3(SH3TC2):c.560T>C (p.Val187Ala) rs1554122762
NM_024577.3(SH3TC2):c.574G>A (p.Glu192Lys) rs755054839
NM_024577.3(SH3TC2):c.629T>C (p.Met210Thr) rs1472681520
NM_024577.3(SH3TC2):c.635A>G (p.Glu212Gly) rs774120657
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.713T>G (p.Leu238Arg) rs1210345750
NM_024577.3(SH3TC2):c.793T>A (p.Ser265Thr) rs1580909284
NM_024577.3(SH3TC2):c.814C>T (p.Arg272Cys) rs146143252
NM_024577.3(SH3TC2):c.826T>A (p.Leu276Met) rs1580908028
NM_024577.3(SH3TC2):c.82G>C (p.Val28Leu) rs1399431033
NM_024577.3(SH3TC2):c.830C>T (p.Thr277Met) rs757969875
NM_024577.3(SH3TC2):c.86C>T (p.Ser29Leu) rs559570623
NM_024577.3(SH3TC2):c.89G>A (p.Ser30Asn) rs765890403
NM_024577.3(SH3TC2):c.8G>A (p.Gly3Asp) rs1465198831
NM_024577.3(SH3TC2):c.908C>A (p.Pro303His) rs778572329
NM_024577.3(SH3TC2):c.929G>A (p.Gly310Glu) rs763949764
NM_024577.3(SH3TC2):c.935C>T (p.Ser312Leu) rs151205080
NM_024577.3(SH3TC2):c.956G>T (p.Gly319Val) rs753423455
NM_024577.4(SH3TC2):c.1001+5G>T
NM_024577.4(SH3TC2):c.1006A>G (p.Arg336Gly)
NM_024577.4(SH3TC2):c.1211C>T (p.Pro404Leu)
NM_024577.4(SH3TC2):c.1217G>T (p.Arg406Ile)
NM_024577.4(SH3TC2):c.1300G>A (p.Ala434Thr)
NM_024577.4(SH3TC2):c.1335T>G (p.Asp445Glu)
NM_024577.4(SH3TC2):c.1408A>G (p.Ile470Val)
NM_024577.4(SH3TC2):c.1460A>G (p.Tyr487Cys)
NM_024577.4(SH3TC2):c.1754G>A (p.Arg585Lys)
NM_024577.4(SH3TC2):c.1856T>A (p.Val619Glu)
NM_024577.4(SH3TC2):c.1894G>A (p.Glu632Lys) rs1580900765
NM_024577.4(SH3TC2):c.2516A>G (p.Tyr839Cys)
NM_024577.4(SH3TC2):c.2609G>A (p.Gly870Glu)
NM_024577.4(SH3TC2):c.265C>T (p.Arg89Cys)
NM_024577.4(SH3TC2):c.2858A>C (p.His953Pro)
NM_024577.4(SH3TC2):c.2894C>T (p.Ser965Phe)
NM_024577.4(SH3TC2):c.3211A>G (p.Ile1071Val)
NM_024577.4(SH3TC2):c.3254A>G (p.Lys1085Arg)
NM_024577.4(SH3TC2):c.3305A>G (p.His1102Arg)
NM_024577.4(SH3TC2):c.3457G>A (p.Ala1153Thr)
NM_024577.4(SH3TC2):c.3761G>A (p.Arg1254Lys)
NM_024577.4(SH3TC2):c.450G>C (p.Leu150Phe)
NM_024577.4(SH3TC2):c.536_538TCT[1] (p.Phe180del) rs763476083
NM_024577.4(SH3TC2):c.679C>T (p.Arg227Trp)
NM_024577.4(SH3TC2):c.746A>G (p.Asn249Ser)
NM_024577.4(SH3TC2):c.833G>T (p.Gly278Val)
NM_024577.4(SH3TC2):c.926T>C (p.Ile309Thr)
NM_024577.4(SH3TC2):c.977T>C (p.Ile326Thr)

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