ClinVar Miner

List of variants studied for classic organic aciduria by Fulgent Genetics,Fulgent Genetics

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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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.1332+3A>C rs367641890
NM_000255.4(MMUT):c.1417G>T (p.Ala473Ser) rs188766510
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_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.5(PCCB):c.1498+2T>C rs879253816
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile) rs147538201
NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter) rs748382994
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp) rs119103229
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
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.383G>A (p.Arg128His) rs367902696
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly) rs28934601
NM_001609.3(ACADSB):c.1187A>C (p.Lys396Thr) rs148640214
NM_001698.2(AUH):c.589C>T (p.Arg197Ter) rs121434636
NM_001698.2(AUH):c.730G>A (p.Asp244Asn) rs202182817
NM_001698.2(AUH):c.791G>A (p.Gly264Glu) rs376821113
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835
NM_002225.5(IVD):c.784+1G>A rs763471771
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335
NM_005334.3(HCFC1):c.4153A>G (p.Arg1385Gly) rs781783048
NM_005334.3(HCFC1):c.4576G>A (p.Ala1526Thr) rs782652831
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_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_020166.5(MCCC1):c.1114C>T (p.Gln372Ter) rs544349961
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703
NM_020166.5(MCCC1):c.945T>A (p.Tyr315Ter) rs150862707
NM_020166.5(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278
NM_022132.5(MCCC2):c.463C>T (p.Arg155Trp) rs141030969
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter) rs111033538

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