ClinVar Miner

List of variants in gene SUOX reported as 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: 10
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HGVS dbSNP
NM_001032386.2(SUOX):c.1200C>G (p.Tyr400Ter) rs747461754
NM_001032386.2(SUOX):c.1280_1281delinsAC (p.Ser427Tyr) rs1565799723
NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe) rs1565799921
NM_001032386.2(SUOX):c.1589G>A (p.Gly530Asp) rs121908009
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser) rs202085145
NM_001032386.2(SUOX):c.363dup (p.Pro122fs) rs1555198521
NM_001032386.2(SUOX):c.520del (p.Asp174fs) rs1565798380
NM_001032386.2(SUOX):c.650G>A (p.Arg217Gln) rs121908007
NM_001032386.2(SUOX):c.794C>A (p.Ala265Asp) rs121908008
NM_001032386.2(SUOX):c.98del (p.Asn33fs) rs773937413

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