ClinVar Miner

List of variants in gene SH3TC2 reported as pathogenic by GeneDx

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Total variants: 11
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NM_024577.3(SH3TC2):c.1351G>T (p.Glu451Ter) rs1308058909
NM_024577.3(SH3TC2):c.1384G>T (p.Glu462Ter) rs749850181
NM_024577.3(SH3TC2):c.1797_1800dup (p.Cys601fs) rs749963147
NM_024577.3(SH3TC2):c.2128C>T (p.Gln710Ter) rs753287764
NM_024577.3(SH3TC2):c.2488G>T (p.Glu830Ter) rs879254317
NM_024577.3(SH3TC2):c.3154C>T (p.Arg1052Ter) rs370115218
NM_024577.3(SH3TC2):c.3303del (p.Arg1101fs) rs864622664
NM_024577.3(SH3TC2):c.3512G>T (p.Arg1171Leu) rs200728983
NM_024577.3(SH3TC2):c.3676-8G>A rs772823083
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934

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