ClinVar Miner

List of variants reported as likely pathogenic for amino acid or protein metabolism disease with epilepsy by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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NM_000071.2(CBS):c.1135C>T (p.Arg379Trp) rs769080151
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151
NM_000277.3(PAH):c.283A>T (p.Ile95Phe) rs62508682
NM_000277.3(PAH):c.441+5G>T rs62507321
NM_000277.3(PAH):c.806T>A (p.Ile269Asn) rs199475644
NM_000277.3(PAH):c.913-7A>G rs62517165
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934

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