ClinVar Miner

List of variants reported as pathogenic for classic organic aciduria by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (39):
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ClinVar version:
Total variants: 27
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HGVS dbSNP
NM_000019.4(ACAT1):c.814C>T (p.Gln272Ter) rs120074144
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter) rs763494292
NM_000191.3(HMGCL):c.698A>G (p.His233Arg) rs727503963
NM_000255.4(MMUT):c.1106G>A (p.Arg369His) rs564069299
NM_000255.4(MMUT):c.1280G>A (p.Gly427Asp) rs753288303
NM_000255.4(MMUT):c.1956+2T>C rs750619189
NM_000255.4(MMUT):c.2150G>T (p.Gly717Val) rs121918252
NM_000255.4(MMUT):c.693C>G (p.Tyr231Ter) rs879253834
NM_000411.8(HLCS):c.1522C>T (p.Arg508Trp) rs119103229
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.5(PCCB):c.1498+2T>C rs879253816
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601
NM_001698.2(AUH):c.589C>T (p.Arg197Ter) rs121434636
NM_002225.3(IVD):c.941C>T (p.Ala314Val) rs28940889
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.784+1G>A rs763471771
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter) rs398124295
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter) rs111033538

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