ClinVar Miner

List of variants in gene BCAT2 studied for inborn disorder of amino acid metabolism

Included ClinVar conditions (416):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001190.4(BCAT2):c.790G>A (p.Glu264Lys) rs767653663 0.00001
BCAT2, INS/DEL, NT1154
NM_001190.4(BCAT2):c.1021G>A (p.Ala341Thr)
NM_001190.4(BCAT2):c.136_147del (p.His46_Pro49del)
NM_001190.4(BCAT2):c.509G>A (p.Arg170Gln) rs749866079
NM_001190.4(BCAT2):c.545T>G (p.Val182Gly)
NM_001190.4(BCAT2):c.600C>A (p.Tyr200Ter)

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