ClinVar Miner

List of variants studied for Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities by Clinical Genomics Laboratory, Washington University in St. Louis

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000937.5(POLR2A):c.493G>A (p.Gly165Ser) rs1466698706 0.00001
NM_000937.5(POLR2A):c.430G>T (p.Val144Phe) rs2508104941
NM_000937.5(POLR2A):c.5099C>T (p.Ser1700Leu) rs1020136721

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