ClinVar Miner

List of variants in gene BRAT1 reported as uncertain significance for Rigidity and multifocal seizure syndrome, lethal neonatal; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures

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Total variants: 4
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HGVS dbSNP
NM_152743.4(BRAT1):c.1198C>G (p.Leu400Val) rs778690788
NM_152743.4(BRAT1):c.1594G>A (p.Gly532Arg) rs142129866
NM_152743.4(BRAT1):c.1828C>T (p.Arg610Trp) rs61753094
NM_152743.4(BRAT1):c.2329A>G (p.Arg777Gly) rs773571503

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