ClinVar Miner

List of variants reported as likely benign for Pseudohypoaldosteronism type 2E; Neurodevelopmental disorder with or without autism or seizures by Fulgent Genetics, Fulgent Genetics

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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003590.5(CUL3):c.1581A>T (p.Ala527=) rs41373148 0.01485
NM_003590.5(CUL3):c.2029+14T>C rs201363693 0.00183
NM_003590.5(CUL3):c.883+13G>C rs147823056 0.00061
NM_003590.5(CUL3):c.264+9C>T rs200018000 0.00039
NM_003590.5(CUL3):c.543C>T (p.Gly181=) rs17480168 0.00011

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