ClinVar Miner

List of variants reported as likely pathogenic for amino acid metabolism disease by Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg

Included ClinVar conditions (436):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_000240.4(MAOA):c.730G>A (p.Val244Ile) rs1135401773
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162

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