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
NM_024577.3(SH3TC2):c.1017C>T (p.Ala339=) rs201779392
NM_024577.3(SH3TC2):c.1177+10G>A rs139257109
NM_024577.3(SH3TC2):c.1299G>A (p.Ser433=) rs140904010
NM_024577.3(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276
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.1767C>T (p.Ser589=) rs139898175
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.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.2691C>G (p.Asn897Lys) rs73795753
NM_024577.3(SH3TC2):c.280-5C>T rs201937366
NM_024577.3(SH3TC2):c.2873-18T>C rs113514936
NM_024577.3(SH3TC2):c.2913C>T (p.Ser971=) rs13436308
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.3479-8A>G rs147800229
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.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.894C>T (p.Ile298=) rs779808918
NM_024577.4(SH3TC2):c.1002-8C>T rs748766254
NM_024577.4(SH3TC2):c.1136-12A>G rs0
NM_024577.4(SH3TC2):c.1177+18T>A rs0
NM_024577.4(SH3TC2):c.1584C>G (p.Ala528=) rs0
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=) rs372749343
NM_024577.4(SH3TC2):c.1890G>A (p.Pro630=) rs0
NM_024577.4(SH3TC2):c.2184C>A (p.Gly728=) rs0
NM_024577.4(SH3TC2):c.2535A>C (p.Ala845=) rs0
NM_024577.4(SH3TC2):c.2718T>C (p.Tyr906=) rs0
NM_024577.4(SH3TC2):c.280-4G>A rs0
NM_024577.4(SH3TC2):c.2873-16C>T rs0
NM_024577.4(SH3TC2):c.2873-17C>T rs0
NM_024577.4(SH3TC2):c.3479-20C>T rs0
NM_024577.4(SH3TC2):c.3522A>G (p.Thr1174=) rs762263591
NM_024577.4(SH3TC2):c.3531C>T (p.Tyr1177=) rs0
NM_024577.4(SH3TC2):c.52+4A>G rs0
NM_024577.4(SH3TC2):c.53-17del rs0
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=) rs0
NM_024577.4(SH3TC2):c.731+17C>A rs0
NM_024577.4(SH3TC2):c.945A>G (p.Ser315=) rs0

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