ClinVar Miner

List of variants reported as likely benign for amino acid or protein metabolism disease with epilepsy by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_000170.2(GLDC):c.1156-7C>G rs150095531
NM_000170.2(GLDC):c.1927-9A>G rs41281773
NM_001358530.2(MOCS1):c.124-69G>A rs45487695
NM_020806.4(GPHN):c.26C>G (p.Thr9Ser) rs150226537
NM_020806.4(GPHN):c.800A>G (p.Asn267Ser) rs41285470

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