ClinVar Miner

List of variants in gene SUOX reported as likely 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: 7
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NM_001032386.2(SUOX):c.1126C>T (p.Arg376Cys) rs781081194
NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln) rs776356158
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.650G>A (p.Arg217Gln) rs121908007
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser) rs144064367

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