ClinVar Miner

List of variants reported as likely pathogenic for amino acid or protein metabolism disease with epilepsy by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.634+1G>T rs753871454
NM_000071.2(CBS):c.361C>T (p.Arg121Cys) rs775992753
NM_000071.2(CBS):c.373C>T (p.Arg125Trp) rs886057100
NM_000277.3(PAH):c.1114A>T (p.Thr372Ser) rs62517163
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.805A>C (p.Ile269Leu) rs62508692
NM_001609.3(ACADSB):c.303+1G>A rs147936696
NM_003748.4(ALDH4A1):c.21del (p.Leu8fs) rs387906314

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