ClinVar Miner

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

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Total variants: 62
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HGVS dbSNP
NM_024577.3(SH3TC2):c.*882G>A rs775429372
NM_024577.3(SH3TC2):c.1178-1G>A rs80338922
NM_024577.3(SH3TC2):c.1194_1195delinsCC (p.Phe399Leu) rs1554121791
NM_024577.3(SH3TC2):c.1285G>T (p.Glu429Ter)
NM_024577.3(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041
NM_024577.3(SH3TC2):c.1342G>C (p.Asp448His) rs587781252
NM_024577.3(SH3TC2):c.1378C>T (p.Gln460Ter)
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.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024577.3(SH3TC2):c.1894_1897delinsAAA (p.Glu632fs)
NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925
NM_024577.3(SH3TC2):c.1982T>C (p.Leu661Pro) rs80338927
NM_024577.3(SH3TC2):c.1985T>C (p.Leu662Pro)
NM_024577.3(SH3TC2):c.217_227delinsCCAGTAA (p.Ala73fs) rs80338919
NM_024577.3(SH3TC2):c.2211_2213del (p.Cys737_Pro738delinsTer)
NM_024577.3(SH3TC2):c.2273C>A (p.Ala758Asp) rs200006756
NM_024577.3(SH3TC2):c.2633C>A (p.Ala878Asp)
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)
NM_024577.3(SH3TC2):c.279G>A (p.Lys93=) rs776221160
NM_024577.3(SH3TC2):c.2873-14T>A
NM_024577.3(SH3TC2):c.28del (p.Glu10fs) rs80338918
NM_024577.3(SH3TC2):c.3013G>T (p.Glu1005Ter)
NM_024577.3(SH3TC2):c.3160C>T (p.His1054Tyr) rs769133498
NM_024577.3(SH3TC2):c.3202C>T (p.Gln1068Ter)
NM_024577.3(SH3TC2):c.3233_3234delAG
NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.3(SH3TC2):c.3321C>A (p.Tyr1107Ter)
NM_024577.3(SH3TC2):c.3326G>C (p.Arg1109Pro) rs80338935
NM_024577.3(SH3TC2):c.3379C>T (p.Arg1127Trp)
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.3676-1G>A
NM_024577.3(SH3TC2):c.3676-8G>A rs772823083
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024577.3(SH3TC2):c.524del (p.Gln175fs) rs1561770179
NM_024577.3(SH3TC2):c.530-1G>A
NM_024577.3(SH3TC2):c.530-2A>G rs80338920
NM_024577.3(SH3TC2):c.596C>T (p.Thr199Ile)
NM_024577.3(SH3TC2):c.680G>A (p.Arg227Gln) rs1257812868
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.920G>A (p.Trp307Ter) rs80338921
NM_024577.3(SH3TC2):c.957del (p.Phe320fs) rs1554122541
NM_024577.4(SH3TC2):c.*858_*862del
NM_024577.4(SH3TC2):c.*861dup
NM_024577.4(SH3TC2):c.1813C>T (p.Arg605Cys)
NM_024577.4(SH3TC2):c.1915del (p.Ala639fs)
NM_024577.4(SH3TC2):c.2228C>G (p.Ala743Gly)
NM_024577.4(SH3TC2):c.253del (p.Asp85fs)
NM_024577.4(SH3TC2):c.280-1334dup
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.4(SH3TC2):c.2989del (p.Arg997fs)
NM_024577.4(SH3TC2):c.3292A>C (p.Thr1098Pro)
NM_024577.4(SH3TC2):c.3295dup (p.Arg1099fs)
NM_024577.4(SH3TC2):c.3305del (p.His1102fs)
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934
NM_024577.4(SH3TC2):c.54dup (p.Lys19Ter)
NM_024577.4(SH3TC2):c.688del (p.Val230fs)

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