ClinVar Miner

List of variants reported as benign for amino acid metabolism disease by Genome Diagnostics Laboratory, Amsterdam University Medical Center

Included ClinVar conditions (117):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_000360.4(TH):c.241G>A (p.Val81Met) rs6356 0.31555
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_000360.4(TH):c.977+8C>G rs12419447 0.27597
NM_000360.4(TH):c.720G>A (p.Lys240=) rs6357 0.23916

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