ClinVar Miner

List of variants in gene SETD1A reported by SNPedia

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_014712.3(SETD1A):c.1272del (p.Tyr425fs) rs869312830
NM_014712.3(SETD1A):c.1938C>G (p.Tyr646Ter) rs770913157
NM_014712.3(SETD1A):c.2171dup (p.Ala725fs) rs869312832
NM_014712.3(SETD1A):c.2209C>T (p.Gln737Ter) rs869312831
NM_014712.3(SETD1A):c.518-2A>G rs869312829

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