ClinVar Miner

List of variants in gene SH3TC2 studied for SH3TC2-Related Disorders

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Total variants: 4
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HGVS dbSNP
NM_024577.3(SH3TC2):c.1384G>T (p.Glu462Ter) rs749850181
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024577.3(SH3TC2):c.524del (p.Gln175fs) rs1561770179
NM_024577.3(SH3TC2):c.730C>T (p.Gln244Ter) rs1463786931

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