ClinVar Miner

List of variants studied for amino acid or protein metabolism disease with epilepsy by DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858
NM_000277.3(PAH):c.1315+1G>A rs5030861
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940
NM_001358530.2(MOCS1):c.124-69G>A rs45487695

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