ClinVar Miner

List of variants in gene SETD1B reported as not provided for Intellectual developmental disorder with seizures and language delay

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001353345.2(SETD1B):c.4757T>G (p.Leu1586Arg)	rs749126935	0.00047
NM_001353345.2(SETD1B):c.4315C>G (p.Pro1439Ala)	rs2137578401

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