ClinVar Miner

List of variants reported as likely benign 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: 5
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NM_000071.2(CBS):c.1643G>A (p.Arg548Gln) rs150828989
NM_000071.2(CBS):c.832_833ins68 (p.?)
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_020806.4(GPHN):c.26C>G (p.Thr9Ser) rs150226537
NM_020806.4(GPHN):c.800A>G (p.Asn267Ser) rs41285470

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