ClinVar Miner

List of variants in gene SH3TC2 reported as likely pathogenic by Invitae

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Total variants: 8
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HGVS dbSNP
NM_024577.3(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926
NM_024577.3(SH3TC2):c.279+1G>A rs1198337036
NM_024577.3(SH3TC2):c.280-2A>G rs1561770798
NM_024577.3(SH3TC2):c.3054-2A>C
NM_024577.3(SH3TC2):c.3328-1G>T rs1554120331
NM_024577.3(SH3TC2):c.385+2T>C rs773554464
NM_024577.3(SH3TC2):c.529+1G>A rs769410348
NM_024577.3(SH3TC2):c.806-1G>A rs1554122560

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