ClinVar Miner

List of variants reported as uncertain significance for classic organic aciduria by Natera, Inc.

Included ClinVar conditions (39):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 289
Download table as spreadsheet
HGVS dbSNP
NM_000019.4(ACAT1):c.-5C>T
NM_000019.4(ACAT1):c.1200T>C (p.His400=)
NM_000019.4(ACAT1):c.1217A>G (p.Glu406Gly) rs147872303
NM_000019.4(ACAT1):c.1221C>T (p.Tyr407=) rs367713788
NM_000019.4(ACAT1):c.1277A>C (p.Lys426Thr)
NM_000019.4(ACAT1):c.171C>A (p.Gly57=)
NM_000019.4(ACAT1):c.291A>T (p.Gly97=) rs746216662
NM_000019.4(ACAT1):c.436G>A (p.Asp146Asn)
NM_000019.4(ACAT1):c.483T>C (p.Tyr161=) rs1591367485
NM_000019.4(ACAT1):c.637G>A (p.Ala213Thr)
NM_000019.4(ACAT1):c.71A>C (p.Gln24Pro)
NM_000019.4(ACAT1):c.772C>T (p.Arg258Cys) rs753816946
NM_000019.4(ACAT1):c.816G>T (p.Gln272His)
NM_000019.4(ACAT1):c.891G>A (p.Thr297=)
NM_000019.4(ACAT1):c.921A>G (p.Thr307=)
NM_000019.4(ACAT1):c.983C>T (p.Ala328Val) rs1057517702
NM_000019.4(ACAT1):c.990A>G (p.Val330=)
NM_000191.3(HMGCL):c.151G>A (p.Val51Ile)
NM_000191.3(HMGCL):c.184A>G (p.Met62Val)
NM_000191.3(HMGCL):c.349-3C>A
NM_000191.3(HMGCL):c.404C>T (p.Thr135Ile)
NM_000191.3(HMGCL):c.497+3G>A rs763178392
NM_000191.3(HMGCL):c.528T>C (p.Tyr176=) rs112508527
NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro)
NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys)
NM_000191.3(HMGCL):c.624G>A (p.Val208=) rs747724373
NM_000191.3(HMGCL):c.704A>G (p.His235Arg)
NM_000191.3(HMGCL):c.751-3T>C
NM_000191.3(HMGCL):c.765C>T (p.Val255=)
NM_000191.3(HMGCL):c.76A>G (p.Met26Val)
NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg)
NM_000282.4(PCCA):c.-4A>C
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872
NM_000282.4(PCCA):c.120T>C (p.Tyr40=)
NM_000282.4(PCCA):c.1214C>A (p.Pro405His)
NM_000282.4(PCCA):c.1275T>G (p.His425Gln)
NM_000282.4(PCCA):c.1285-1417T>C
NM_000282.4(PCCA):c.1383G>A (p.Glu461=)
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.1760G>C (p.Gly587Ala)
NM_000282.4(PCCA):c.1817G>C (p.Ser606Thr)
NM_000282.4(PCCA):c.1884G>A (p.Gln628=) rs552141237
NM_000282.4(PCCA):c.1891G>A (p.Gly631Ser)
NM_000282.4(PCCA):c.1896A>G (p.Thr632=) rs61760965
NM_000282.4(PCCA):c.1929C>T (p.Ala643=) rs772945583
NM_000282.4(PCCA):c.1953G>A (p.Leu651=)
NM_000282.4(PCCA):c.202G>A (p.Val68Ile) rs768750176
NM_000282.4(PCCA):c.2037C>T (p.Asp679=) rs146870931
NM_000282.4(PCCA):c.2040+11dup rs779884567
NM_000282.4(PCCA):c.2040+9TG[3]
NM_000282.4(PCCA):c.2055A>G (p.Gln685=) rs147568036
NM_000282.4(PCCA):c.2082A>T (p.Lys694Asn)
NM_000282.4(PCCA):c.2101G>C (p.Ala701Pro)
NM_000282.4(PCCA):c.2113G>T (p.Gly705Cys)
NM_000282.4(PCCA):c.2T>C (p.Met1Thr) rs372093520
NM_000282.4(PCCA):c.328G>C (p.Val110Leu) rs150788587
NM_000282.4(PCCA):c.36C>T (p.Val12=) rs375516917
NM_000282.4(PCCA):c.370A>G (p.Met124Val)
NM_000282.4(PCCA):c.484G>A (p.Val162Ile)
NM_000282.4(PCCA):c.490A>G (p.Ile164Val) rs539693612
NM_000282.4(PCCA):c.522G>A (p.Met174Ile) rs780406346
NM_000282.4(PCCA):c.54G>A (p.Gly18=) rs1373903905
NM_000282.4(PCCA):c.551C>G (p.Ala184Gly)
NM_000282.4(PCCA):c.649A>G (p.Met217Val)
NM_000282.4(PCCA):c.660C>T (p.Ala220=) rs145826296
NM_000282.4(PCCA):c.825A>G (p.Leu275=) rs376560248
NM_000282.4(PCCA):c.914+8T>A rs543352333
NM_000282.4(PCCA):c.929C>T (p.Ala310Val) rs146927771
NM_000282.4(PCCA):c.999G>A (p.Gly333=)
NM_000532.5(PCCB):c.1215C>T (p.Tyr405=) rs191375566
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg) rs145628302
NM_000532.5(PCCB):c.1541G>A (p.Arg514Gln) rs577625696
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328
NM_000532.5(PCCB):c.544-5G>C rs372351800
NM_000532.5(PCCB):c.749A>G (p.His250Arg)
NM_000532.5(PCCB):c.763+10C>G rs180982841
NM_000532.5(PCCB):c.774C>G (p.His258Gln) rs141615209
NM_000532.5(PCCB):c.911C>T (p.Thr304Ile) rs147538201
NM_000532.5(PCCB):c.988T>G (p.Phe330Val) rs748708704
NM_001243279.3(ACSF3):c.1127-5T>C rs200245960
NM_001243279.3(ACSF3):c.1127-7C>G rs761564953
NM_001243279.3(ACSF3):c.1242G>A (p.Val414=) rs766713747
NM_001243279.3(ACSF3):c.129C>T (p.Ser43=) rs147915828
NM_001243279.3(ACSF3):c.1301G>C (p.Arg434Pro) rs137995833
NM_001243279.3(ACSF3):c.1398C>T (p.Tyr466=) rs200146632
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp) rs147538370
NM_001243279.3(ACSF3):c.1502-4G>A rs111414659
NM_001243279.3(ACSF3):c.1524G>A (p.Pro508=) rs375187216
NM_001243279.3(ACSF3):c.1613+8T>G rs1358602745
NM_001243279.3(ACSF3):c.1704G>A (p.Ala568=) rs539500659
NM_001243279.3(ACSF3):c.480C>T (p.Val160=) rs375671065
NM_001243279.3(ACSF3):c.633C>T (p.Gly211=) rs140941507
NM_001243279.3(ACSF3):c.666+9C>T rs767663198
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_001243279.3(ACSF3):c.672C>T (p.Thr224=) rs150374081
NM_001243279.3(ACSF3):c.726C>T (p.Leu242=) rs377354800
NM_001243279.3(ACSF3):c.823-4G>C rs558325262
NM_001243279.3(ACSF3):c.936C>T (p.His312=) rs202119269
NM_001352514.2(HLCS):c.1073C>T (p.Thr358Met) rs142524025
NM_001352514.2(HLCS):c.1480C>T (p.Pro494Ser)
NM_001352514.2(HLCS):c.1550C>T (p.Thr517Ile) rs575286749
NM_001352514.2(HLCS):c.1685C>A (p.Ser562Tyr)
NM_001352514.2(HLCS):c.1719C>T (p.Tyr573=)
NM_001352514.2(HLCS):c.1781C>T (p.Ser594Leu)
NM_001352514.2(HLCS):c.1857C>A (p.Ala619=) rs759178651
NM_001352514.2(HLCS):c.2225A>G (p.Tyr742Cys)
NM_001352514.2(HLCS):c.2340C>T (p.Ala780=) rs760265551
NM_001352514.2(HLCS):c.2416G>A (p.Val806Ile) rs368124997
NM_001352514.2(HLCS):c.2432A>G (p.Tyr811Cys) rs776535574
NM_001352514.2(HLCS):c.2500G>A (p.Val834Ile) rs145648338
NM_001352514.2(HLCS):c.2529G>A (p.Gln843=)
NM_001352514.2(HLCS):c.2545G>A (p.Gly849Ser)
NM_001352514.2(HLCS):c.2615G>A (p.Arg872Gln) rs147474255
NM_001352514.2(HLCS):c.737A>G (p.Tyr246Cys)
NM_001352514.2(HLCS):c.767G>T (p.Cys256Phe)
NM_001370658.1(BTD):c.-45A>T
NM_001370658.1(BTD):c.1151C>T (p.Thr384Ile) rs397514405
NM_001370658.1(BTD):c.1177G>A (p.Gly393Ser) rs374141881
NM_001370658.1(BTD):c.1372G>A (p.Ala458Thr) rs181396238
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780
NM_001370658.1(BTD):c.481A>G (p.Ser161Gly) rs541012569
NM_001370658.1(BTD):c.522C>G (p.Phe174Leu) rs750363004
NM_001370658.1(BTD):c.616A>G (p.Lys206Glu)
NM_001370658.1(BTD):c.68A>G (p.His23Arg) rs146011150
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_002225.5(IVD):c.1001T>C (p.Met334Thr) rs368041528
NM_002225.5(IVD):c.137A>G (p.Gln46Arg)
NM_002225.5(IVD):c.148C>G (p.Arg50Gly) rs34695403
NM_002225.5(IVD):c.164A>T (p.Lys55Met) rs145999491
NM_002225.5(IVD):c.202A>G (p.Ile68Val)
NM_002225.5(IVD):c.264C>T (p.Gly88=) rs377199313
NM_002225.5(IVD):c.334A>T (p.Met112Leu)
NM_002225.5(IVD):c.357C>T (p.Ser119=)
NM_002225.5(IVD):c.408G>C (p.Gln136His) rs569537063
NM_002225.5(IVD):c.438A>G (p.Lys146=) rs1007239169
NM_002225.5(IVD):c.456G>A (p.Lys152=) rs886044117
NM_002225.5(IVD):c.490A>G (p.Met164Val)
NM_002225.5(IVD):c.60G>T (p.Pro20=)
NM_002225.5(IVD):c.784+9C>T
NM_002225.5(IVD):c.796C>G (p.Leu266Val) rs766980574
NM_002225.5(IVD):c.803A>G (p.His268Arg)
NM_002225.5(IVD):c.832A>C (p.Ser278Arg) rs552272986
NM_002225.5(IVD):c.848A>G (p.Glu283Gly) rs1314850102
NM_002225.5(IVD):c.865G>A (p.Gly289Arg)
NM_002225.5(IVD):c.870G>T (p.Gly290=)
NM_015506.3(MMACHC):c.641G>A (p.Arg214His) rs202189863
NM_015702.3(MMADHC):c.10-9C>G
NM_015702.3(MMADHC):c.455C>G (p.Thr152Arg) rs146795035
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143
NM_015702.3(MMADHC):c.735T>G (p.Thr245=) rs530553915
NM_015702.3(MMADHC):c.73G>T (p.Val25Phe)
NM_015702.3(MMADHC):c.743G>A (p.Arg248His) rs756858861
NM_015702.3(MMADHC):c.869T>G (p.Met290Arg)
NM_020166.5(MCCC1):c.*1A>T rs115605600
NM_020166.5(MCCC1):c.1048A>G (p.Ile350Val)
NM_020166.5(MCCC1):c.1259T>C (p.Val420Ala)
NM_020166.5(MCCC1):c.1261C>T (p.Arg421Trp) rs764744442
NM_020166.5(MCCC1):c.1282G>A (p.Val428Met)
NM_020166.5(MCCC1):c.1303G>A (p.Ala435Thr) rs142507365
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His) rs768785753
NM_020166.5(MCCC1):c.1337C>T (p.Ala446Val) rs144182725
NM_020166.5(MCCC1):c.1367G>A (p.Arg456His)
NM_020166.5(MCCC1):c.1427A>T (p.His476Leu)
NM_020166.5(MCCC1):c.144C>T (p.Asn48=) rs77681010
NM_020166.5(MCCC1):c.1475A>G (p.His492Arg)
NM_020166.5(MCCC1):c.1492C>T (p.Leu498Phe) rs139926581
NM_020166.5(MCCC1):c.1561G>A (p.Ala521Thr) rs149957640
NM_020166.5(MCCC1):c.1644G>A (p.Ser548=)
NM_020166.5(MCCC1):c.1658T>A (p.Met553Lys) rs774055789
NM_020166.5(MCCC1):c.1705A>T (p.Asn569Tyr)
NM_020166.5(MCCC1):c.1709A>G (p.His570Arg)
NM_020166.5(MCCC1):c.1715G>C (p.Gly572Ala)
NM_020166.5(MCCC1):c.1768T>C (p.Tyr590His)
NM_020166.5(MCCC1):c.1792C>A (p.Leu598Met) rs138480247
NM_020166.5(MCCC1):c.1842G>A (p.Leu614=)
NM_020166.5(MCCC1):c.1942G>A (p.Gly648Ser) rs149017703
NM_020166.5(MCCC1):c.2009C>T (p.Ala670Val)
NM_020166.5(MCCC1):c.2089G>A (p.Val697Met)
NM_020166.5(MCCC1):c.208A>G (p.Lys70Glu)
NM_020166.5(MCCC1):c.294C>T (p.Ile98=) rs368288499
NM_020166.5(MCCC1):c.300C>G (p.Pro100=) rs747409426
NM_020166.5(MCCC1):c.314A>G (p.Gln105Arg)
NM_020166.5(MCCC1):c.362C>T (p.Ala121Val)
NM_020166.5(MCCC1):c.373A>G (p.Ile125Val)
NM_020166.5(MCCC1):c.387C>T (p.Cys129=)
NM_020166.5(MCCC1):c.428A>T (p.Lys143Met)
NM_020166.5(MCCC1):c.492-4A>G
NM_020166.5(MCCC1):c.863A>G (p.Glu288Gly) rs746500530
NM_020166.5(MCCC1):c.873G>A (p.Ala291=) rs138794621
NM_020166.5(MCCC1):c.918A>C (p.Ala306=)
NM_020166.5(MCCC1):c.984A>T (p.Lys328Asn) rs142513139
NM_022132.5(MCCC2):c.*6A>G
NM_022132.5(MCCC2):c.1120G>A (p.Gly374Arg)
NM_022132.5(MCCC2):c.1124T>C (p.Val375Ala)
NM_022132.5(MCCC2):c.114C>G (p.Gly38=) rs750638270
NM_022132.5(MCCC2):c.1206A>G (p.Gln402=)
NM_022132.5(MCCC2):c.1282G>A (p.Ala428Thr) rs371374378
NM_022132.5(MCCC2):c.1322T>C (p.Ile441Thr) rs139852818
NM_022132.5(MCCC2):c.1344A>G (p.Gly448=)
NM_022132.5(MCCC2):c.1374-10C>T rs766032118
NM_022132.5(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278
NM_022132.5(MCCC2):c.1438A>G (p.Asn480Asp)
NM_022132.5(MCCC2):c.1441G>A (p.Val481Met) rs767575019
NM_022132.5(MCCC2):c.1474C>T (p.Arg492Trp)
NM_022132.5(MCCC2):c.1488+10del
NM_022132.5(MCCC2):c.1488+3C>T rs374049769
NM_022132.5(MCCC2):c.1504G>C (p.Glu502Gln) rs767326357
NM_022132.5(MCCC2):c.1545G>C (p.Glu515Asp)
NM_022132.5(MCCC2):c.1559A>C (p.Tyr520Ser) rs150327768
NM_022132.5(MCCC2):c.1574+5G>T
NM_022132.5(MCCC2):c.162T>C (p.Asn54=) rs774812912
NM_022132.5(MCCC2):c.1635dup (p.Ser546Ter) rs768272570
NM_022132.5(MCCC2):c.1653A>G (p.Ala551=)
NM_022132.5(MCCC2):c.1657A>G (p.Ile553Val) rs143156315
NM_022132.5(MCCC2):c.1665G>T (p.Lys555Asn)
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=)
NM_022132.5(MCCC2):c.1690T>C (p.Ter564Gln) rs751970792
NM_022132.5(MCCC2):c.196+3A>G
NM_022132.5(MCCC2):c.258A>G (p.Arg86=)
NM_022132.5(MCCC2):c.385G>A (p.Val129Ile)
NM_022132.5(MCCC2):c.417C>T (p.Thr139=)
NM_022132.5(MCCC2):c.438C>T (p.Tyr146=)
NM_022132.5(MCCC2):c.450G>C (p.Val150=) rs151098534
NM_022132.5(MCCC2):c.478G>A (p.Ala160Thr) rs727504009
NM_022132.5(MCCC2):c.650C>T (p.Thr217Ile)
NM_022132.5(MCCC2):c.738+9A>G rs776559643
NM_022132.5(MCCC2):c.775G>T (p.Asp259Tyr)
NM_022132.5(MCCC2):c.815T>G (p.Val272Gly) rs1199145486
NM_022132.5(MCCC2):c.90G>T (p.Ser30=) rs559384926
NM_022132.5(MCCC2):c.914A>G (p.Glu305Gly)
NM_022132.5(MCCC2):c.995G>A (p.Arg332Gln) rs144203670
NM_025136.4(OPA3):c.15G>C (p.Ala5=)
NM_025136.4(OPA3):c.416A>G (p.Gln139Arg)
NM_052845.4(MMAB):c.-4G>C rs372195202
NM_052845.4(MMAB):c.116G>A (p.Gly39Asp)
NM_052845.4(MMAB):c.14G>A (p.Gly5Asp)
NM_052845.4(MMAB):c.184A>G (p.Thr62Ala)
NM_052845.4(MMAB):c.206G>C (p.Ser69Thr)
NM_052845.4(MMAB):c.298C>T (p.Leu100=)
NM_052845.4(MMAB):c.349-10C>T rs896742047
NM_052845.4(MMAB):c.349-9G>A
NM_052845.4(MMAB):c.370G>A (p.Val124Ile)
NM_052845.4(MMAB):c.372C>T (p.Val124=)
NM_052845.4(MMAB):c.378G>A (p.Ser126=)
NM_052845.4(MMAB):c.394T>C (p.Cys132Arg) rs147457956
NM_052845.4(MMAB):c.401C>T (p.Ser134Leu)
NM_052845.4(MMAB):c.402G>A (p.Ser134=) rs756766385
NM_052845.4(MMAB):c.406C>A (p.Arg136=) rs763783083
NM_052845.4(MMAB):c.44G>A (p.Arg15His)
NM_052845.4(MMAB):c.503C>T (p.Thr168Met)
NM_052845.4(MMAB):c.516G>T (p.Leu172=) rs914000089
NM_052845.4(MMAB):c.522G>A (p.Ser174=) rs545625368
NM_052845.4(MMAB):c.539C>T (p.Ser180Leu)
NM_052845.4(MMAB):c.561C>T (p.Ala187=) rs370773720
NM_052845.4(MMAB):c.576C>T (p.Ala192=)
NM_052845.4(MMAB):c.57C>T (p.Arg19=) rs10774774
NM_052845.4(MMAB):c.583C>T (p.Arg195Cys) rs199853576
NM_052845.4(MMAB):c.584+6A>G
NM_052845.4(MMAB):c.620C>T (p.Ala207Val) rs61739388
NM_052845.4(MMAB):c.656A>G (p.Tyr219Cys) rs765547005
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)
NM_052845.4(MMAB):c.99G>A (p.Gln33=) rs749127574
NM_172250.3(MMAA):c.-4G>A
NM_172250.3(MMAA):c.1003A>T (p.Ile335Phe) rs199749473
NM_172250.3(MMAA):c.1044A>C (p.Leu348=)
NM_172250.3(MMAA):c.1078C>T (p.Arg360Trp) rs6812252
NM_172250.3(MMAA):c.1121G>A (p.Ser374Asn) rs778178659
NM_172250.3(MMAA):c.129G>A (p.Pro43=) rs779779664
NM_172250.3(MMAA):c.175G>C (p.Asp59His) rs371779800
NM_172250.3(MMAA):c.208A>C (p.Thr70Pro)
NM_172250.3(MMAA):c.269A>T (p.Tyr90Phe)
NM_172250.3(MMAA):c.367C>T (p.Leu123Phe)
NM_172250.3(MMAA):c.373A>G (p.Lys125Glu)
NM_172250.3(MMAA):c.393A>T (p.Arg131Ser)
NM_172250.3(MMAA):c.440-4G>A
NM_172250.3(MMAA):c.65G>T (p.Arg22Leu)
NM_172250.3(MMAA):c.67T>C (p.Cys23Arg)
NM_172250.3(MMAA):c.722T>C (p.Ile241Thr)
NM_172250.3(MMAA):c.734-7A>G
NM_172250.3(MMAA):c.746C>T (p.Ser249Leu)
NM_172250.3(MMAA):c.800C>T (p.Ala267Val) rs138854691
NM_172250.3(MMAA):c.824T>C (p.Ile275Thr)
NM_172250.3(MMAA):c.850G>C (p.Asp284His)
NM_172250.3(MMAA):c.86A>G (p.His29Arg)
NM_172250.3(MMAA):c.928C>G (p.Leu310Val)
NM_172250.3(MMAA):c.92G>A (p.Ser31Asn)
NM_172250.3(MMAA):c.966A>G (p.Pro322=) rs150692463
NM_172250.3(MMAA):c.989G>A (p.Arg330Gln) rs140031911

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.