ClinVar Miner

List of variants in gene combination ASPA, SPATA22 reported as likely benign 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: 5
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HGVS dbSNP
NM_000049.3(ASPA):c.427A>G (p.Ile143Val) rs199565861
NM_000049.3(ASPA):c.693C>T (p.Tyr231=) rs12948217
NM_000049.3(ASPA):c.906G>A (p.Thr302=) rs371394875
NM_000049.3(ASPA):c.927C>T (p.Arg309=) rs749049390
NM_000049.4(ASPA):c.237-6T>C

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