ClinVar Miner

List of variants reported as uncertain significance for classic organic aciduria by Department of Pediatrics, Gifu University

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NC_000011.10:g.108133862_108133866delinsAA
NC_000011.10:g.108134281G>A
NC_000011.10:g.108134283C>A
NC_000011.10:g.108138922G>A
NC_000011.10:g.108138996G>T
NC_000011.10:g.108140087C>T
NC_000011.10:g.108140149A>C
NC_000011.10:g.108141634G>A
NC_000011.10:g.108141638A>C
NC_000011.10:g.108142439A>C
NC_000011.10:g.108142461G>A
NC_000011.10:g.108142464C>T
NC_000011.10:g.108143989_108143991dup
NC_000011.10:g.108147273G>A
NM_000019.4(ACAT1):c.121-3C>G
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val) rs767412638
NM_000019.4(ACAT1):c.1253G>A (p.Gly418Asp) rs886042080
NM_000019.4(ACAT1):c.765A>T (p.Glu255Asp) rs794727893

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