ClinVar Miner

List of variants reported as likely benign 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_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA rs876657421
NM_000170.2(GLDC):c.2316-13dup rs3215923
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896
NM_001075098.3(MOCS1):c.[853G>A;c.1015C>T]
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886
NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp)
NM_001609.4(ACADSB):c.1128+20_1128+26dup

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