ClinVar Miner

List of variants in gene SH3TC2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630 0.00407
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.505T>C (p.Tyr169His) rs80359890 0.00205
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) rs143032801 0.00173
NM_024577.4(SH3TC2):c.3813C>T (p.Ser1271=) rs140985600 0.00166
NM_024577.4(SH3TC2):c.137A>C (p.Gln46Pro) rs146162276 0.00114
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.2990G>A (p.Arg997Gln) rs140307699 0.00047
NM_024577.4(SH3TC2):c.1443C>T (p.Asp481=) rs146666910 0.00031
NM_024577.4(SH3TC2):c.1767C>T (p.Ser589=) rs139898175 0.00023
NM_024577.4(SH3TC2):c.285C>T (p.Leu95=) rs574669908 0.00006
NM_024577.4(SH3TC2):c.1623G>A (p.Lys541=) rs372749343 0.00004
NM_024577.4(SH3TC2):c.3150G>A (p.Ala1050=) rs768044718 0.00004
NM_024577.4(SH3TC2):c.3177A>G (p.Glu1059=) rs766282582 0.00004
NM_024577.4(SH3TC2):c.3180C>T (p.Asp1060=) rs780060168 0.00004
NM_024577.4(SH3TC2):c.3417C>T (p.Leu1139=) rs367649953 0.00001
NM_024577.4(SH3TC2):c.1402_1403delinsAA (p.Ala468Asn) rs863224780
NM_024577.4(SH3TC2):c.1402_1403delinsTT (p.Ala468Phe) rs863224780
NM_024577.4(SH3TC2):c.3762G>A (p.Arg1254=) rs374376222
NM_024577.4(SH3TC2):c.3793C>T (p.Leu1265=)
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879

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