ClinVar Miner

List of variants studied for amino acid or protein metabolism disease with epilepsy by Mendelics

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP
NM_000071.2(CBS):c.1105C>T (p.Arg369Cys) rs117687681
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.1358G>A (p.Gly453Glu) rs886039146
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA rs876657421
NM_000170.2(GLDC):c.1117C>T (p.Arg373Trp) rs150171524
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000170.2(GLDC):c.2316-13dup rs3215923
NM_000170.2(GLDC):c.799C>G (p.Pro267Ala) rs1554648117
NM_000170.3(GLDC):c.2838+1G>A
NM_000277.1(PAH):c.[353-507G>T;754C>T]
NM_000277.3(PAH):c.1085C>G (p.Pro362Arg)
NM_000277.3(PAH):c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367fs)
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.168+5G>A rs62507288
NM_000277.3(PAH):c.168+5G>C rs62507288
NM_000277.3(PAH):c.239dup (p.Thr81fs)
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616
NM_000481.4(AMT):c.311G>A (p.Gly104Glu)
NM_000481.4(AMT):c.478del (p.Val160fs)
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000481.4(AMT):c.908del (p.Pro303fs)
NM_001032386.2(SUOX):c.1126C>T (p.Arg376Cys)
NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe) rs1565799921
NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr)
NM_001032386.2(SUOX):c.332T>A (p.Val111Asp) rs794729211
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser)
NM_001075098.3(MOCS1):c.[853G>A;c.1015C>T]
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886
NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp)
NM_001609.4(ACADSB):c.1128+20_1128+26dup
NM_021800.3(DNAJC12):c.124C>T (p.His42Tyr)
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys) rs115954396
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_152783.5(D2HGDH):c.854-1200C>T

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