ClinVar Miner

List of variants in gene combination AMT, NICN1 reported as pathogenic for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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NM_000481.4(AMT):c.15_18del (p.Ser6fs) rs1553638904
NM_000481.4(AMT):c.18_19TG[1] (p.Val7fs)

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