ClinVar Miner

List of variants in gene SH3TC2 reported by Mendelics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932 0.00001
NM_024577.4(SH3TC2):c.2189del (p.Gly730fs) rs1580900473
NM_024577.4(SH3TC2):c.731+2T>G rs2127400622
NM_024577.4(SH3TC2):c.806-3C>T rs1241993356
NM_024577.4(SH3TC2):c.974del (p.Asn325fs) rs1580907885

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