ClinVar Miner

List of variants studied 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: 20
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HGVS dbSNP
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706
NM_000170.2(GLDC):c.*7G>C rs2228098
NM_000170.2(GLDC):c.1055C>G (p.Thr352Arg) rs1554648060
NM_000170.2(GLDC):c.1156-7C>G rs150095531
NM_000170.2(GLDC):c.1705G>A (p.Ala569Thr) rs151268759
NM_000170.2(GLDC):c.1927-9A>G rs41281773
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys) rs5030860
NM_000277.3(PAH):c.1315+1G>A rs5030861
NM_000277.3(PAH):c.168+19T>C rs17842947
NM_000277.3(PAH):c.561G>A (p.Trp187Ter) rs62507336
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000481.4(AMT):c.954G>A (p.Arg318=) rs11715915
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=) rs773115
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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