ClinVar Miner

List of variants in gene AMT 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: 25
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HGVS dbSNP
AMT, 1-BP DEL, 183C
NM_000481.3(AMT):c.1033+2T>C rs1553638247
NM_000481.3(AMT):c.471+2T>C rs386833684
NM_000481.3(AMT):c.878-1G>A rs181134220
NM_000481.4(AMT):c.125A>G (p.His42Arg) rs121964983
NM_000481.4(AMT):c.139G>A (p.Gly47Arg) rs121964982
NM_000481.4(AMT):c.164G>A (p.Trp55Ter) rs1559530507
NM_000481.4(AMT):c.230C>T (p.Ser77Leu) rs386833680
NM_000481.4(AMT):c.256C>T (p.Gln86Ter) rs1575308888
NM_000481.4(AMT):c.350C>T (p.Ser117Leu) rs769468125
NM_000481.4(AMT):c.452_466del (p.Lys151_Leu155del) rs386833683
NM_000481.4(AMT):c.478del (p.Val160fs) rs1575305901
NM_000481.4(AMT):c.574C>T (p.Gln192Ter) rs121964986
NM_000481.4(AMT):c.664C>T (p.Arg222Cys) rs781466698
NM_000481.4(AMT):c.734_735del (p.Thr245fs)
NM_000481.4(AMT):c.794G>A (p.Arg265His) rs757918826
NM_000481.4(AMT):c.806G>A (p.Gly269Asp) rs121964981
NM_000481.4(AMT):c.826G>C (p.Asp276His) rs121964984
NM_000481.4(AMT):c.870G>A (p.Trp290Ter) rs797045082
NM_000481.4(AMT):c.886C>T (p.Arg296Cys) rs1056820947
NM_000481.4(AMT):c.887G>A (p.Arg296His) rs386833690
NM_000481.4(AMT):c.908del (p.Pro303fs) rs1575303218
NM_000481.4(AMT):c.958C>T (p.Arg320Cys) rs866625610
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985
NM_000481.4(AMT):c.982dup (p.Ala328fs) rs1553638266

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