ClinVar Miner

List of variants reported as pathogenic for amino acid or protein metabolism disease with epilepsy by Baylor Genetics

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 35
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HGVS dbSNP
NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.3(ASPA):c.746A>T (p.Asp249Val) rs104894552
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) rs937670540
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter) rs12948217
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu) rs28940574
NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) rs771298943
NM_000071.2(CBS):c.19dup (p.Gln7fs) rs748695461
NM_000071.3(CBS):c.1152G>C (p.Lys384Asn) rs1304669003
NM_000071.3(CBS):c.833T>C (p.Ile278Thr) rs5742905
NM_000071.3(CBS):c.919G>A (p.Gly307Ser) rs121964962
NM_000170.2(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000170.3(GLDC):c.1059-1G>T rs1587958061
NM_000170.3(GLDC):c.2052+1G>A rs765906340
NM_000277.3(PAH):c.1068C>A (p.Tyr356Ter) rs62516095
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926
NM_000277.3(PAH):c.1199+17G>A rs62508613
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln) rs5030859
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.1315+1G>A rs5030861
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.320A>G (p.His107Arg) rs542645236
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.611A>G (p.Tyr204Cys) rs62514927
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588
NM_000277.3(PAH):c.818C>T (p.Ser273Phe) rs62514953
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853
NM_000277.3(PAH):c.912+1G>A rs62514956
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502

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