ClinVar Miner

List of variants in gene AMT reported as benign 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: 8
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HGVS dbSNP
NM_000481.3(AMT):c.101G>A (p.Arg34His) rs138259479
NM_000481.4(AMT):c.*696C>T rs10640
NM_000481.4(AMT):c.1145G>A (p.Arg382Gln) rs141246107
NM_000481.4(AMT):c.354G>A (p.Leu118=) rs145194293
NM_000481.4(AMT):c.510G>C (p.Val170=)
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000481.4(AMT):c.898A>G (p.Met300Val) rs144971200
NM_000481.4(AMT):c.954G>A (p.Arg318=) rs11715915

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