ClinVar Miner

List of variants in gene SH3TC2 reported as likely benign for Charcot-Marie-Tooth disease

Included ClinVar conditions (137):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 175
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HGVS dbSNP
NM_024577.3(SH3TC2):c.*10875T>C rs184560843
NM_024577.3(SH3TC2):c.*11010A>G rs114735628
NM_024577.3(SH3TC2):c.*12108_*12110del rs35182601
NM_024577.3(SH3TC2):c.*12509T>C rs550901114
NM_024577.3(SH3TC2):c.*12637A>G rs536941130
NM_024577.3(SH3TC2):c.*12807G>A rs150317192
NM_024577.3(SH3TC2):c.*13230C>T rs138600983
NM_024577.3(SH3TC2):c.*13352G>A rs192178726
NM_024577.3(SH3TC2):c.*15489G>A rs115194965
NM_024577.3(SH3TC2):c.*16169G>A rs191600511
NM_024577.3(SH3TC2):c.*16378C>A rs144423228
NM_024577.3(SH3TC2):c.*16784C>T rs144720540
NM_024577.3(SH3TC2):c.*16900_*16901delCA rs71957589
NM_024577.3(SH3TC2):c.*16947C>T rs142551288
NM_024577.3(SH3TC2):c.*1750C>T rs146276637
NM_024577.3(SH3TC2):c.*18476T>C rs185251230
NM_024577.3(SH3TC2):c.*18606T>G rs182775401
NM_024577.3(SH3TC2):c.*19002A>G rs546701780
NM_024577.3(SH3TC2):c.*20142A>G rs189978591
NM_024577.3(SH3TC2):c.*20564A>T rs150905092
NM_024577.3(SH3TC2):c.*2081T>G rs543206033
NM_024577.3(SH3TC2):c.*21472A>G rs59731646
NM_024577.3(SH3TC2):c.*21482_*21485delAAAC rs146796490
NM_024577.3(SH3TC2):c.*21728T>C rs142485824
NM_024577.3(SH3TC2):c.*21786G>A rs6890482
NM_024577.3(SH3TC2):c.*22035G>A rs544954149
NM_024577.3(SH3TC2):c.*22212G>A rs149300520
NM_024577.3(SH3TC2):c.*22357T>C rs191754280
NM_024577.3(SH3TC2):c.*22553dup rs55932017
NM_024577.3(SH3TC2):c.*2341A>G rs531168193
NM_024577.3(SH3TC2):c.*2987C>T rs565331463
NM_024577.3(SH3TC2):c.*3061A>G rs138823547
NM_024577.3(SH3TC2):c.*3079G>A rs185297430
NM_024577.3(SH3TC2):c.*4279C>G rs74578025
NM_024577.3(SH3TC2):c.*4298C>T rs145849837
NM_024577.3(SH3TC2):c.*4446G>C rs186152591
NM_024577.3(SH3TC2):c.*4713G>A rs191742061
NM_024577.3(SH3TC2):c.*5020C>T rs371723580
NM_024577.3(SH3TC2):c.*6047T>A rs139490756
NM_024577.3(SH3TC2):c.*6301C>T rs188143654
NM_024577.3(SH3TC2):c.*6302T>A rs545169695
NM_024577.3(SH3TC2):c.*6350G>A rs184940808
NM_024577.3(SH3TC2):c.*6470T>C rs185164450
NM_024577.3(SH3TC2):c.*6820T>C rs60176324
NM_024577.3(SH3TC2):c.*6993T>C rs563203537
NM_024577.3(SH3TC2):c.*711A>C rs567593663
NM_024577.3(SH3TC2):c.*7939C>A rs144288040
NM_024577.3(SH3TC2):c.*8277G>A rs147532508
NM_024577.3(SH3TC2):c.*837G>A rs565462353
NM_024577.3(SH3TC2):c.*858_*861del rs5872107
NM_024577.3(SH3TC2):c.*8622del rs562125931
NM_024577.3(SH3TC2):c.*9361C>T rs573872364
NM_024577.3(SH3TC2):c.*9953C>T rs535186520
NM_024577.3(SH3TC2):c.1002-7G>A rs752528409
NM_024577.3(SH3TC2):c.1017C>T (p.Ala339=) rs201779392
NM_024577.3(SH3TC2):c.1106G>A (p.Arg369His) rs551803988
NM_024577.3(SH3TC2):c.1177+10G>A rs139257109
NM_024577.3(SH3TC2):c.1177+9C>T rs375581325
NM_024577.3(SH3TC2):c.1178-8C>T rs202042438
NM_024577.3(SH3TC2):c.1178C>T (p.Ala393Val) rs148321018
NM_024577.3(SH3TC2):c.1194_1195delinsCC (p.Phe399Leu) rs1554121791
NM_024577.3(SH3TC2):c.1195T>C (p.Phe399Leu) rs144764160
NM_024577.3(SH3TC2):c.1284G>A (p.Glu428=) rs367691494
NM_024577.3(SH3TC2):c.1299G>A (p.Ser433=) rs140904010
NM_024577.3(SH3TC2):c.1311C>T (p.Asp437=) rs749587305
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276
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.1584C>T (p.Ala528=) rs762967613
NM_024577.3(SH3TC2):c.1767C>T (p.Ser589=) rs139898175
NM_024577.3(SH3TC2):c.1788T>A (p.Gly596=) rs141893132
NM_024577.3(SH3TC2):c.1794G>C (p.Leu598=) rs1554121710
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.1845G>A (p.Val615=) rs914238218
NM_024577.3(SH3TC2):c.1854C>T (p.Tyr618=) rs1483284949
NM_024577.3(SH3TC2):c.1862G>A (p.Arg621His) rs143032801
NM_024577.3(SH3TC2):c.188G>A (p.Arg63Lys) rs747938069
NM_024577.3(SH3TC2):c.1942C>T (p.Arg648Trp) rs537049075
NM_024577.3(SH3TC2):c.1947C>T (p.His649=) rs576049662
NM_024577.3(SH3TC2):c.2130G>A (p.Gln710=) rs763652479
NM_024577.3(SH3TC2):c.2199T>A (p.Ser733=) rs1220210982
NM_024577.3(SH3TC2):c.2254G>A (p.Asp752Asn) rs749008572
NM_024577.3(SH3TC2):c.2304C>T (p.Leu768=) rs140829706
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.2464C>T (p.Leu822=) rs752906301
NM_024577.3(SH3TC2):c.2691C>G (p.Asn897Lys) rs73795753
NM_024577.3(SH3TC2):c.280-5C>T rs201937366
NM_024577.3(SH3TC2):c.285C>T (p.Leu95=) rs574669908
NM_024577.3(SH3TC2):c.2873-18T>C rs113514936
NM_024577.3(SH3TC2):c.2873-4T>A rs771093927
NM_024577.3(SH3TC2):c.2913C>T (p.Ser971=) rs13436308
NM_024577.3(SH3TC2):c.3049G>A (p.Ala1017Thr) rs186029710
NM_024577.3(SH3TC2):c.3127G>T (p.Ala1043Ser) rs200819602
NM_024577.3(SH3TC2):c.3168C>T (p.Leu1056=) rs200795092
NM_024577.3(SH3TC2):c.3294C>T (p.Thr1098=) rs193067884
NM_024577.3(SH3TC2):c.3315G>A (p.Val1105=) rs375970910
NM_024577.3(SH3TC2):c.3362C>T (p.Ala1121Val) rs115577291
NM_024577.3(SH3TC2):c.3380G>A (p.Arg1127Gln) rs139192433
NM_024577.3(SH3TC2):c.3479-8A>G rs147800229
NM_024577.3(SH3TC2):c.3644G>A (p.Arg1215His) rs145390629
NM_024577.3(SH3TC2):c.3676-9C>T rs748694034
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.3771G>A (p.Leu1257=) rs1472880531
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.505T>C (p.Tyr169His) rs80359890
NM_024577.3(SH3TC2):c.529+8T>A rs780594631
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.732-6T>C rs1554122676
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.794C>T (p.Ser265Phe) rs149873249
NM_024577.3(SH3TC2):c.831G>A (p.Thr277=) rs750308484
NM_024577.3(SH3TC2):c.894C>T (p.Ile298=) rs779808918
NM_024577.4(SH3TC2):c.*11427G>A
NM_024577.4(SH3TC2):c.*12189C>T
NM_024577.4(SH3TC2):c.*12550A>G
NM_024577.4(SH3TC2):c.*13204A>G
NM_024577.4(SH3TC2):c.*13645C>T
NM_024577.4(SH3TC2):c.*14188C>T
NM_024577.4(SH3TC2):c.*16395G>T
NM_024577.4(SH3TC2):c.*1765G>C
NM_024577.4(SH3TC2):c.*20099T>C
NM_024577.4(SH3TC2):c.*20512C>A
NM_024577.4(SH3TC2):c.*2269G>T
NM_024577.4(SH3TC2):c.*4052T>C
NM_024577.4(SH3TC2):c.*5536T>G
NM_024577.4(SH3TC2):c.*5947C>G
NM_024577.4(SH3TC2):c.*6600T>C
NM_024577.4(SH3TC2):c.*7810T>A
NM_024577.4(SH3TC2):c.*7918C>T
NM_024577.4(SH3TC2):c.*797A>G
NM_024577.4(SH3TC2):c.*8533A>G
NM_024577.4(SH3TC2):c.1002-8C>T rs748766254
NM_024577.4(SH3TC2):c.1136-12A>G
NM_024577.4(SH3TC2):c.1177+18T>A
NM_024577.4(SH3TC2):c.1584C>G (p.Ala528=)
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=) rs372749343
NM_024577.4(SH3TC2):c.1890G>A (p.Pro630=)
NM_024577.4(SH3TC2):c.1995C>T (p.His665=) rs751912297
NM_024577.4(SH3TC2):c.2097G>A (p.Gln699=) rs117860293
NM_024577.4(SH3TC2):c.2184C>A (p.Gly728=)
NM_024577.4(SH3TC2):c.2535A>C (p.Ala845=)
NM_024577.4(SH3TC2):c.254A>T (p.Asp85Val) rs567173388
NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=)
NM_024577.4(SH3TC2):c.2743A>T (p.Thr915Ser)
NM_024577.4(SH3TC2):c.280-4G>A
NM_024577.4(SH3TC2):c.2873-16C>T
NM_024577.4(SH3TC2):c.2873-17C>T
NM_024577.4(SH3TC2):c.2919G>A (p.Val973=) rs145528276
NM_024577.4(SH3TC2):c.3177A>G (p.Glu1059=) rs766282582
NM_024577.4(SH3TC2):c.3456C>T (p.Ala1152=) rs530810802
NM_024577.4(SH3TC2):c.3459C>G (p.Ala1153=) rs1030348232
NM_024577.4(SH3TC2):c.3479-20C>T
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=) rs762263591
NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=)
NM_024577.4(SH3TC2):c.3816G>T (p.Gly1272=) rs1038817068
NM_024577.4(SH3TC2):c.52+4A>G
NM_024577.4(SH3TC2):c.53-17del
NM_024577.4(SH3TC2):c.543C>T (p.Cys181=) rs371302639
NM_024577.4(SH3TC2):c.660G>C (p.Val220=) rs202052720
NM_024577.4(SH3TC2):c.687G>C (p.Leu229=)
NM_024577.4(SH3TC2):c.731+17C>A
NM_024577.4(SH3TC2):c.855T>C (p.Asp285=) rs773193703
NM_024577.4(SH3TC2):c.87G>A (p.Ser29=) rs148793803
NM_024577.4(SH3TC2):c.945A>G (p.Ser315=)

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