ClinVar Miner

List of variants studied for inborn disorder of branched-chain amino acid metabolism by Pediatric Department, Xiangya Hospital, Central South University

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_004208.4(AIFM1):c.1084A>C (p.Lys362Gln)
NM_014362.4(HIBCH):c.439-2A>G rs1180861300
NM_014362.4(HIBCH):c.958A>G (p.Lys320Glu)

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