ClinVar Miner

List of variants in gene BRAT1 reported as pathogenic for Neurodevelopmental disorder with cerebellar atrophy and with or without seizures

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Total variants: 6
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HGVS dbSNP
NM_152743.4(BRAT1):c.1825C>T (p.Arg609Trp) rs886039312
NM_152743.4(BRAT1):c.1925C>A (p.Ala642Glu) rs200502048
NM_152743.4(BRAT1):c.294dup (p.Leu99fs) rs776913277
NM_152743.4(BRAT1):c.419T>C (p.Leu140Pro) rs1085307958
NM_152743.4(BRAT1):c.638dup (p.Val214fs) rs730880324
NM_152743.4(BRAT1):c.803+1G>C rs869312931

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