ClinVar Miner

List of variants reported as uncertain significance for amino acid or protein metabolism disease with epilepsy by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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_000071.2(CBS):c.770C>T (p.Thr257Met) rs758236584
NM_000166.6(GJB1):c.425G>A (p.Arg142Gln) rs786204123
NM_000170.2(GLDC):c.1853G>A (p.Gly618Glu) rs1563839743
NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp) rs386833556
NM_001001563.5(TIMM50):c.671G>T (p.Arg224Ile)
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105
NM_001609.3(ACADSB):c.1128+3A>T rs760423996
NM_004531.5(MOCS2):c.-54A>C rs1561177917
NM_016335.5(PRODH):c.865T>A (p.Leu289Met) rs137852934

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