ClinVar Miner

List of variants reported as uncertain significance for Neurodevelopmental disorder by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_006662.3(SRCAP):c.9338_9341del (p.Leu3113fs)	rs2053199279
NM_006662.3(SRCAP):c.9344del (p.Pro3115fs)	rs2151301366
NM_006662.3(SRCAP):c.9364del (p.Leu3122fs)	rs2151301385

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