ClinVar Miner

List of variants reported as likely pathogenic for amino acid or protein metabolism disease with epilepsy by Genomic Research Center, Shahid Beheshti University of Medical Sciences

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000071.2(CBS):c.1135C>T (p.Arg379Trp) rs769080151
NM_000071.2(CBS):c.434C>T (p.Pro145Leu) rs121964963
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1180G>C (p.Asp394His) rs62516142
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln) rs776356158
NM_001358530.2(MOCS1):c.1506_1507AG[1] (p.Glu503fs) rs397518419

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