ClinVar Miner

List of variants reported for Neurodevelopmental disorder with cerebellar atrophy and with or without seizures by Neuberg Centre For Genomic Medicine, NCGM

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Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_152743.4(BRAT1):c.1130C>A (p.Pro377Gln)	rs746357232
NM_152743.4(BRAT1):c.296T>C (p.Leu99Pro)	rs2534415268

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