ClinVar Miner

List of variants reported as pathogenic for amino acid or protein metabolism disease with epilepsy by Mendelics

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000170.2(GLDC):c.1117C>T (p.Arg373Trp) rs150171524
NM_000170.3(GLDC):c.2838+1G>A rs542056100
NM_000277.1(PAH):c.[353-507G>T;754C>T]
NM_000277.3(PAH):c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367fs) rs1592947538
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.168+5G>A rs62507288
NM_000277.3(PAH):c.168+5G>C rs62507288
NM_000277.3(PAH):c.239dup (p.Thr81fs) rs1592978816
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000481.4(AMT):c.478del (p.Val160fs) rs1575305901
NM_000481.4(AMT):c.908del (p.Pro303fs) rs1575303218

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