ClinVar Miner

List of variants reported as pathogenic for amino acid or protein metabolism disease with epilepsy by Genome Diagnostics Laboratory,University Medical Center Utrecht

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860
NM_000277.3(PAH):c.1315+1G>A rs5030861
NM_000277.3(PAH):c.526C>T (p.Arg176Ter) rs199475575
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.838G>A (p.Glu280Lys) rs62508698
NM_000277.3(PAH):c.941C>A (p.Pro314His) rs62642940

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