ClinVar Miner

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

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Total variants: 54
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.2691C>G (p.Asn897Lys) rs73795753 0.00494
NM_024577.4(SH3TC2):c.2913C>T (p.Ser971=) rs13436308 0.00462
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630 0.00407
NM_024577.4(SH3TC2):c.3362C>T (p.Ala1121Val) rs115577291 0.00390
NM_024577.4(SH3TC2):c.3294C>T (p.Thr1098=) rs193067884 0.00337
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_024577.4(SH3TC2):c.238G>A (p.Ala80Thr) rs112507765 0.00297
NM_024577.4(SH3TC2):c.558C>T (p.Ser186=) rs141289653 0.00290
NM_024577.4(SH3TC2):c.1842C>T (p.Asp614=) rs138411915 0.00267
NM_024577.4(SH3TC2):c.3479-8A>G rs147800229 0.00227
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=) rs140985600 0.00166
NM_024577.4(SH3TC2):c.2873-18T>C rs113514936 0.00154
NM_024577.4(SH3TC2):c.1177+10G>A rs139257109 0.00153
NM_024577.4(SH3TC2):c.3834G>A (p.Ala1278=) rs117804174 0.00133
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276 0.00114
NM_024577.4(SH3TC2):c.1299G>A (p.Ser433=) rs140904010 0.00108
NM_024577.4(SH3TC2):c.3315G>A (p.Val1105=) rs375970910 0.00083
NM_024577.4(SH3TC2):c.1482C>T (p.Leu494=) rs200665714 0.00056
NM_024577.4(SH3TC2):c.2385C>T (p.Ser795=) rs145345364 0.00038
NM_024577.4(SH3TC2):c.1443C>T (p.Asp481=) rs146666910 0.00031
NM_024577.4(SH3TC2):c.2304C>T (p.Leu768=) rs140829706 0.00026
NM_024577.4(SH3TC2):c.1767C>T (p.Ser589=) rs139898175 0.00023
NM_024577.4(SH3TC2):c.1839C>T (p.Leu613=) rs182893450 0.00019
NM_024577.4(SH3TC2):c.529+8T>A rs780594631 0.00010
NM_024577.4(SH3TC2):c.894C>T (p.Ile298=) rs779808918 0.00010
NM_024577.4(SH3TC2):c.280-5C>T rs201937366 0.00009
NM_024577.4(SH3TC2):c.549C>T (p.Ala183=) rs147013935 0.00009
NM_024577.4(SH3TC2):c.1814G>A (p.Arg605His) rs186864272 0.00006
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=) rs372749343 0.00004
NM_024577.4(SH3TC2):c.1890G>A (p.Pro630=) rs143197881 0.00004
NM_024577.4(SH3TC2):c.3479-20C>T rs376784930 0.00004
NM_024577.4(SH3TC2):c.1017C>T (p.Ala339=) rs201779392 0.00003
NM_024577.4(SH3TC2):c.660G>C (p.Val220=) rs202052720 0.00003
NM_024577.4(SH3TC2):c.1136-12A>G rs367677521 0.00002
NM_024577.4(SH3TC2):c.543C>T (p.Cys181=) rs371302639 0.00002
NM_024577.4(SH3TC2):c.1002-8C>T rs748766254 0.00001
NM_024577.4(SH3TC2):c.2535A>C (p.Ala845=) rs1406112399 0.00001
NM_024577.4(SH3TC2):c.280-4G>A rs747321591 0.00001
NM_024577.4(SH3TC2):c.2873-16C>T rs1387099711 0.00001
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=) rs762263591 0.00001
NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=) rs747405272 0.00001
NM_024577.4(SH3TC2):c.3723G>A (p.Ala1241=) rs777895612 0.00001
NM_024577.4(SH3TC2):c.945A>G (p.Ser315=) rs144520038 0.00001
NM_024577.4(SH3TC2):c.1177+18T>A rs1454045139
NM_024577.4(SH3TC2):c.1584C>G (p.Ala528=) rs762967613
NM_024577.4(SH3TC2):c.2184C>A (p.Gly728=) rs1754092804
NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=) rs148073022
NM_024577.4(SH3TC2):c.2873-17C>T rs1754070873
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024577.4(SH3TC2):c.52+4A>G rs1170747720
NM_024577.4(SH3TC2):c.53-17del rs1754572524
NM_024577.4(SH3TC2):c.687G>C (p.Leu229=) rs1025939209
NM_024577.4(SH3TC2):c.731+17C>A rs1188522082

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