ClinVar Miner

List of variants reported as likely benign for amino acid or protein metabolism disease with epilepsy by Inserm U 954, Faculté de Médecine de Nancy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP
NM_000277.3(PAH):c.1152C>G (p.Pro384=) rs281865458
NM_000277.3(PAH):c.1199+70G>A rs281865457
NM_000277.3(PAH):c.169-42T>A rs281865459
NM_000277.3(PAH):c.612T>C (p.Tyr204=) rs62514928

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