ClinVar Miner

List of variants studied 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: 26
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HGVS dbSNP
NM_000049.4(ASPA):c.309dup (p.Asp104fs)
NM_000049.4(ASPA):c.437_449del (p.Ser146fs)
NM_000071.2(CBS):c.1135C>T (p.Arg379Trp) rs769080151
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000071.2(CBS):c.434C>T (p.Pro145Leu) rs121964963
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.1940C>T (p.Pro647Leu) rs201135624
NM_000170.2(GLDC):c.2368C>T (p.Arg790Trp) rs386833556
NM_000170.2(GLDC):c.2405C>T (p.Ala802Val) rs121964977
NM_000170.2(GLDC):c.2544C>G (p.Tyr848Ter) rs1554643354
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1180G>C (p.Asp394His) rs62516142
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853
NM_001001563.5(TIMM50):c.671G>T (p.Arg224Ile)
NM_001032386.2(SUOX):c.1376G>A (p.Arg459Gln)
NM_001321336.1(SPATA22):c.-73-12212dup rs756198538
NM_001358530.2(MOCS1):c.1506_1507AG[1] (p.Glu503fs) rs397518419
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_004531.5(MOCS2):c.2T>G (p.Met1Arg) rs772575104
NM_016335.5(PRODH):c.865T>A (p.Leu289Met) rs137852934

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