ClinVar Miner

List of variants reported for Intellectual disability, autosomal dominant 51 by Revvity Omics, Revvity

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_017635.5(KMT5B):c.2020G>A (p.Gly674Ser) rs758460246 0.00003
NM_017635.5(KMT5B):c.1618C>T (p.Arg540Trp) rs769344868 0.00001
NM_017635.5(KMT5B):c.2021G>A (p.Gly674Asp) rs2496190745
NM_017635.5(KMT5B):c.2471_2474del (p.Glu824fs) rs2496181338

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