ClinVar Miner

List of variants reported as uncertain significance for amino acid or protein metabolism disease with epilepsy by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP
NM_000049.3(ASPA):c.509T>C (p.Ile170Thr) rs144321760
NM_000071.2(CBS):c.1353G>C (p.Glu451Asp) rs367962613
NM_000071.2(CBS):c.1411G>A (p.Gly471Arg) rs201098477
NM_000071.2(CBS):c.1484C>T (p.Thr495Met) rs772344567
NM_000071.2(CBS):c.1594G>A (p.Gly532Arg) rs748953468
NM_000071.2(CBS):c.887C>T (p.Thr296Met) rs562530775
NM_000170.2(GLDC):c.1525C>G (p.Pro509Ala) rs557412758
NM_000170.2(GLDC):c.2852C>A (p.Ser951Tyr) rs147472391
NM_000277.3(PAH):c.299A>G (p.His100Arg) rs148393887
NM_000481.4(AMT):c.1082C>T (p.Ala361Val) rs757293245
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105
NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214
NM_004483.5(GCSH):c.53C>T (p.Ala18Val) rs540997326
NM_004531.5(MOCS2):c.108G>A (p.Met36Ile) rs140563222
NM_005881.4(BCKDK):c.904A>G (p.Ile302Val) rs201164597
NM_024884.3(L2HGDH):c.1177A>G (p.Thr393Ala) rs150157112
NM_152783.5(D2HGDH):c.517G>A (p.Val173Ile) rs146408017

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