ClinVar Miner

List of variants studied for amino acid or protein metabolism disease with epilepsy by Genome Diagnostics Laboratory,VU University Medical Center Amsterdam

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000071.2(CBS):c.832_833ins68 (p.?)
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181
NM_000071.3(CBS):c.531+11G>A rs186114513
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=) rs773115

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