ClinVar Miner

List of variants reported as likely 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: 8
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HGVS dbSNP
NM_000277.3(PAH):c.1085C>G (p.Pro362Arg) rs1592947563
NM_000481.4(AMT):c.311G>A (p.Gly104Glu) rs753221440
NM_001032386.2(SUOX):c.1126C>T (p.Arg376Cys) rs781081194
NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe) rs1565799921
NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr) rs770792767
NM_001032386.2(SUOX):c.332T>A (p.Val111Asp) rs794729211
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser) rs144064367
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502

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