ClinVar Miner

List of variants reported as 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: 30
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HGVS dbSNP
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.1224-2A>C rs375846341
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
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.1166C>T (p.Ala389Val) rs121964979
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000277.3(PAH):c.1045T>C (p.Ser349Pro) rs62508646
NM_000277.3(PAH):c.1055del (p.Gly352fs) rs62516094
NM_000277.3(PAH):c.1066-3C>T rs62507344
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856
NM_000277.3(PAH):c.117C>G (p.Phe39Leu) rs62642926
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp) rs5030858
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.1315+1G>A rs5030861
NM_000277.3(PAH):c.165T>G (p.Phe55Leu) rs199475598
NM_000277.3(PAH):c.169-13T>G rs62507341
NM_000277.3(PAH):c.261C>A (p.Ser87Arg) rs62516151
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929
NM_000277.3(PAH):c.434A>T (p.Asp145Val) rs140175796
NM_000277.3(PAH):c.638T>C (p.Leu213Pro) rs62516109
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.896T>G (p.Phe299Cys) rs62642933
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322

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