ClinVar Miner

List of variants studied for Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000937.5(POLR2A):c.209G>A (p.Arg70His)
NM_000937.5(POLR2A):c.3712+4A>G
NM_000937.5(POLR2A):c.5125A>G (p.Thr1709Ala)

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