ClinVar Miner

List of variants studied for classic organic aciduria by Baylor Genetics

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 148
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HGVS dbSNP
NM_000116.5(TAFAZZIN):c.212C>T (p.Ser71Phe)
NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln) rs121964997
NM_000191.3(HMGCL):c.437G>A (p.Ser146Asn)
NM_000191.3(HMGCL):c.8C>T (p.Ala3Val)
NM_000255.4(MMUT):c.1091A>C (p.Tyr364Ser)
NM_000255.4(MMUT):c.1435A>G (p.Ile479Val)
NM_000255.4(MMUT):c.235A>G (p.Met79Val)
NM_000255.4(MMUT):c.878A>G (p.Gln293Arg) rs138374956
NM_000255.4(MMUT):c.88C>T (p.Gln30Ter) rs879253824
NM_000282.4(PCCA):c.2041-1G>T rs1367867218
NM_000282.4(PCCA):c.39del (p.Ala14fs) rs1593996563
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000282.4(PCCA):c.809T>C (p.Ile270Thr)
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) rs751538672
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.5(PCCB):c.1456T>C (p.Tyr486His)
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823
NM_000532.5(PCCB):c.337C>T (p.Arg113Ter) rs186031457
NM_000532.5(PCCB):c.35C>A (p.Ala12Glu)
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp) rs754752068
NM_000532.5(PCCB):c.990dup (p.Glu331Ter) rs786200983
NM_001001563.5(TIMM50):c.620G>T (p.Ser207Ile)
NM_001001563.5(TIMM50):c.854-8G>C
NM_001017989.3(OPA3):c.184G>A (p.Gly62Ser) rs140959406
NM_001081.3(CUBN):c.4669C>T (p.Leu1557Phe) rs140970422
NM_001081.3(CUBN):c.5305G>C (p.Val1769Leu) rs74116778
NM_001081.3(CUBN):c.8701G>A (p.Val2901Ile) rs201093611
NM_001081.4(CUBN):c.265A>C (p.Lys89Gln)
NM_001081.4(CUBN):c.7406C>T (p.Pro2469Leu)
NM_001081.4(CUBN):c.7837A>C (p.Ile2613Leu)
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794
NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg)
NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter)
NM_001243279.3(ACSF3):c.1444T>C (p.Tyr482His)
NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val)
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.1666T>A (p.Phe556Ile)
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959
NM_001258392.3(CLPB):c.1803G>A (p.Val601=)
NM_001258392.3(CLPB):c.1840C>G (p.Pro614Ala)
NM_001258392.3(CLPB):c.1870G>C (p.Glu624Gln)
NM_001258392.3(CLPB):c.259A>T (p.Thr87Ser)
NM_001258392.3(CLPB):c.441G>C (p.Met147Ile) rs146895312
NM_001258392.3(CLPB):c.908A>G (p.Glu303Gly) rs144712077
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.303+3A>G rs1345480688
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001609.4(ACADSB):c.1228+1G>A
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter) rs374420253
NM_001609.4(ACADSB):c.640G>T (p.Ala214Ser)
NM_001698.2(AUH):c.791G>A (p.Gly264Glu) rs376821113
NM_002225.5(IVD):c.-9A>T rs373594717
NM_002225.5(IVD):c.1009C>T (p.Arg337Trp) rs776608445
NM_002225.5(IVD):c.1174C>T (p.Arg392Cys) rs371427844
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) rs773560012
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.232C>T (p.Arg78Ter) rs765815516
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835
NM_002225.5(IVD):c.498del (p.Glu166fs) rs398123684
NM_002225.5(IVD):c.550+1G>A rs377147994
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766
NM_002225.5(IVD):c.932C>T (p.Ala311Val) rs28940889
NM_002225.5(IVD):c.960G>T (p.Gln320His) rs367814475
NM_005334.3(HCFC1):c.1697C>T (p.Thr566Met)
NM_005334.3(HCFC1):c.3674T>C (p.Ile1225Thr)
NM_005334.3(HCFC1):c.4291C>T (p.His1431Tyr)
NM_005334.3(HCFC1):c.4566G>A (p.Ser1522=)
NM_005334.3(HCFC1):c.5053G>A (p.Val1685Met)
NM_005334.3(HCFC1):c.5698A>G (p.Ser1900Gly)
NM_013247.5(HTRA2):c.146G>C (p.Arg49Pro)
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014362.4(HIBCH):c.517+1G>A rs1021805910
NM_014362.4(HIBCH):c.529G>C (p.Asp177His)
NM_014362.4(HIBCH):c.763C>G (p.Arg255Gly)
NM_014384.2(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419
NM_014384.2(ACAD8):c.2T>C (p.Met1Thr) rs767041100
NM_014384.2(ACAD8):c.466G>T (p.Ala156Ser) rs201273972
NM_014384.2(ACAD8):c.988C>T (p.Arg330Trp) rs121908420
NM_014384.3(ACAD8):c.763G>A (p.Val255Met)
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.2(MMACHC):c.482G>A rs121918243
NM_015506.3(MMACHC):c.178dup (p.Asp60fs) rs1570829757
NM_015506.3(MMACHC):c.202C>T (p.Gln68Ter) rs1570829862
NM_015506.3(MMACHC):c.276G>T (p.Glu92Asp) rs556977618
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs) rs796052000
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter) rs121918242
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.352del (p.Gln118fs) rs749264632
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter) rs121918241
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs) rs746135357
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter) rs757325789
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.481C>G (p.Arg161Gly) rs370596113
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter) rs370596113
NM_015506.3(MMACHC):c.497dup (p.Pro167fs) rs1481893137
NM_015506.3(MMACHC):c.567dup (p.Ile190fs) rs1463495909
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro) rs1233135084
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter) rs747527726
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.626dup (p.Thr210fs) rs1570833527
NM_015506.3(MMACHC):c.649G>A (p.Glu217Lys)
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.799dup (p.Arg267fs) rs1553163005
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter) rs1570829502
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter) rs771673343
NM_015702.3(MMADHC):c.406A>G (p.Ser136Gly)
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs) rs749272546
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs) rs779151199
NM_018368.4(LMBRD1):c.907C>A (p.Pro303Thr)
NM_020166.5(MCCC1):c.130_131delinsTT (p.Ala44Phe) rs1553868919
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703
NM_020166.5(MCCC1):c.310C>A (p.Gln104Lys)
NM_020166.5(MCCC1):c.635G>C (p.Gly212Ala) rs749287771
NM_020166.5(MCCC1):c.640-2A>G rs772395858
NM_020166.5(MCCC1):c.89+1G>C rs771730236
NM_020166.5(MCCC1):c.898A>G (p.Lys300Glu)
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.5(MCCC2):c.1501G>A (p.Asp501Asn)
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys) rs547662164
NM_022132.5(MCCC2):c.955G>A (p.Gly319Arg)
NM_025136.4(OPA3):c.367C>T (p.Arg123Trp)
NM_030943.4(AMN):c.1324G>A (p.Val442Ile)
NM_032861.4(SERAC1):c.1763del (p.Val588fs)
NM_032861.4(SERAC1):c.1828+3A>G
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp) rs139301835
NM_032861.4(SERAC1):c.438del (p.Thr147fs) rs1583595091
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236
NM_032861.4(SERAC1):c.935C>T (p.Pro312Leu)
NM_172250.3(MMAA):c.1157G>A (p.Arg386Gln)
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851

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