ClinVar Miner

List of variants studied for Neurodevelopmental disorder with hypotonia, facial dysmorphism, and brain abnormalities by Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Centre

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001135629.3(PPP1R21):c.1448T>G (p.Ile483Ser) rs200775619 0.00003
NM_001135629.3(PPP1R21):c.2338C>T (p.Arg780Ter) rs147062361 0.00001
NM_001135629.3(PPP1R21):c.760G>A (p.Asp254Asn)

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