ClinVar Miner

List of variants studied for amino acid metabolism disease by Genomic Medicine Lab, University of California San Francisco

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln) rs121918243 0.00007
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp) rs753711253 0.00002
NM_001287444.2(DCDC2C):c.955-1G>C rs1167362443 0.00001
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile) rs886040861
NM_003042.4(SLC6A1):c.863C>T (p.Ala288Val) rs794726860
NM_014049.5(ACAD9):c.1109del (p.Pro370fs) rs1576344664

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