ClinVar Miner

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

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 126
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_013247.5(HTRA2):c.480C>G (p.Ala160=) rs2231248 0.01771
NM_018368.4(LMBRD1):c.980+11T>C rs114726590 0.01756
NM_002225.5(IVD):c.*2285C>G rs114657778 0.01453
NM_001001563.5(TIMM50):c.26C>G (p.Ser9Trp) rs35135520 0.01198
NM_018368.4(LMBRD1):c.801C>T (p.Arg267=) rs34327883 0.01106
NM_014384.3(ACAD8):c.210+6C>T rs148089913 0.01003
NM_005050.4(ABCD4):c.195T>C (p.Ser65=) rs35417609 0.00937
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn) rs61750442 0.00751
NM_032861.4(SERAC1):c.1684+168T>C rs141960153 0.00719
NM_032861.4(SERAC1):c.1684+209T>C rs148162521 0.00718
NM_000282.4(PCCA):c.1846-9G>T rs141118743 0.00627
NM_000255.4(MMUT):c.1333-18T>G rs111667453 0.00608
NM_001352514.2(HLCS):c.726C>T (p.Pro242=) rs2230182 0.00587
NM_001001563.5(TIMM50):c.598-15C>T rs45611439 0.00486
NM_030813.6(CLPB):c.668G>A (p.Ser223Asn) rs143097446 0.00471
NM_001081.4(CUBN):c.2791+9_2791+16del rs375796983 0.00423
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=) rs116763934 0.00417
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met) rs114443105 0.00411
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=) rs116173262 0.00410
NM_001698.3(AUH):c.927A>G (p.Glu309=) rs78739693 0.00399
NM_000255.4(MMUT):c.1083+20T>C rs200148994 0.00356
NM_000019.4(ACAT1):c.1068T>C (p.Phe356=) rs139657823 0.00308
NM_001081.4(CUBN):c.2103A>G (p.Thr701=) rs143693723 0.00290
NM_001081.4(CUBN):c.5011A>C (p.Arg1671=) rs144472791 0.00255
NM_000532.5(PCCB):c.373-1292C>T rs117604575 0.00188
NM_000282.4(PCCA):c.1284+16G>A rs113610934 0.00169
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_001081.4(CUBN):c.349-8A>G rs188559699 0.00129
NM_032861.4(SERAC1):c.1137A>G (p.Val379=) rs115846131 0.00100
NM_005334.3(HCFC1):c.5418G>A (p.Met1806Ile) rs199511876 0.00094
NM_001081.4(CUBN):c.5733+16C>T rs139579256 0.00080
NM_001081.4(CUBN):c.2110+18T>C rs117028815 0.00075
NM_015506.3(MMACHC):c.181C>T (p.Arg61Trp) rs200483477 0.00072
NM_000255.4(MMUT):c.1444+13G>A rs374285380 0.00061
NM_001081.4(CUBN):c.8410+18T>C rs186604664 0.00059
NM_001081.4(CUBN):c.2016G>A (p.Pro672=) rs148107237 0.00052
NM_000282.4(PCCA):c.1002C>T (p.Thr334=) rs150106872 0.00044
NM_001081.4(CUBN):c.7434C>T (p.Cys2478=) rs148976047 0.00044
NM_001081.4(CUBN):c.9826+15G>A rs369467797 0.00040
NM_001081.4(CUBN):c.7533+17G>A rs374394291 0.00035
NM_001081.4(CUBN):c.5424G>T (p.Val1808=) rs148649437 0.00032
NM_001081.4(CUBN):c.9705G>A (p.Thr3235=) rs370784621 0.00031
NM_001081.4(CUBN):c.4701C>T (p.Tyr1567=) rs113941731 0.00030
NM_001081.4(CUBN):c.7971A>G (p.Pro2657=) rs140160866 0.00030
NM_015506.3(MMACHC):c.19G>A (p.Glu7Lys) rs377405910 0.00030
NM_014362.4(HIBCH):c.957A>G (p.Ser319=) rs3213841 0.00028
NM_001081.4(CUBN):c.3646C>G (p.Pro1216Ala) rs145881708 0.00027
NM_015506.3(MMACHC):c.126G>A (p.Pro42=) rs201112314 0.00025
NM_001081.4(CUBN):c.7491G>A (p.Leu2497=) rs189314395 0.00022
NM_001081.4(CUBN):c.7508C>T (p.Pro2503Leu) rs140983139 0.00021
NM_001081.4(CUBN):c.813C>T (p.Pro271=) rs139348777 0.00021
NM_001081.4(CUBN):c.9455-13T>C rs374390875 0.00021
NM_001081.4(CUBN):c.10038C>T (p.His3346=) rs113079734 0.00019
NM_015506.3(MMACHC):c.8C>G (p.Pro3Arg) rs201807738 0.00019
NM_001081.4(CUBN):c.7000+15A>T rs556690868 0.00017
NM_000255.4(MMUT):c.1084-12C>T rs373027036 0.00016
NM_001081.4(CUBN):c.6039C>T (p.Pro2013=) rs149569558 0.00016
NM_001081.4(CUBN):c.5130C>T (p.Ser1710=) rs750798030 0.00015
NM_000255.4(MMUT):c.2124+16A>G rs376257828 0.00014
NM_001081.4(CUBN):c.1112-12A>G rs762175932 0.00014
NM_001081.4(CUBN):c.2922C>T (p.Phe974=) rs201802902 0.00014
NM_001081.4(CUBN):c.8913C>T (p.Ser2971=) rs370685424 0.00014
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=) rs370581324 0.00011
NM_015506.3(MMACHC):c.783G>A (p.Gly261=) rs776623221 0.00011
NM_001081.4(CUBN):c.516C>T (p.Asn172=) rs576450214 0.00010
NM_000255.4(MMUT):c.1676+10T>C rs199886805 0.00009
NM_000282.4(PCCA):c.232-20A>G rs376850891 0.00009
NM_001081.4(CUBN):c.2961C>T (p.Asn987=) rs148712017 0.00009
NM_015506.3(MMACHC):c.462T>C (p.Phe154=) rs199747998 0.00009
NM_015506.3(MMACHC):c.699A>G (p.Leu233=) rs377439596 0.00009
NM_001081.4(CUBN):c.10028C>T (p.Pro3343Leu) rs150358307 0.00007
NM_018368.4(LMBRD1):c.636+14G>T rs376670737 0.00007
NM_000255.4(MMUT):c.1956+17G>C rs199735681 0.00006
NM_000255.4(MMUT):c.912-13G>A rs542038574 0.00006
NM_001081.4(CUBN):c.5210-7C>G rs760324864 0.00006
NM_001081.4(CUBN):c.4470C>T (p.Thr1490=) rs768720429 0.00005
NM_000255.4(MMUT):c.756C>T (p.His252=) rs376716145 0.00004
NM_001081.4(CUBN):c.3672+20C>T rs762191994 0.00004
NM_001081.4(CUBN):c.5964C>T (p.Pro1988=) rs539618523 0.00004
NM_001081.4(CUBN):c.6462+19C>G rs372356491 0.00004
NM_001081.4(CUBN):c.6822-6C>T rs762758607 0.00004
NM_001243279.3(ACSF3):c.546G>A (p.Pro182=) rs755163107 0.00004
NM_015506.3(MMACHC):c.402T>C (p.Asp134=) rs774024065 0.00004
NM_015506.3(MMACHC):c.700T>C (p.Leu234=) rs199964843 0.00004
NM_022132.5(MCCC2):c.1674C>T (p.Phe558=) rs768354167 0.00004
NM_052845.4(MMAB):c.402G>A (p.Ser134=) rs756766385 0.00004
NM_000255.4(MMUT):c.123A>G (p.Pro41=) rs753769272 0.00003
NM_001081.4(CUBN):c.5355G>A (p.Leu1785=) rs199509575 0.00003
NM_005334.3(HCFC1):c.5206C>T (p.Leu1736=) rs782368009 0.00003
NM_013247.5(HTRA2):c.618C>G (p.Val206=) rs186272815 0.00003
NM_015506.3(MMACHC):c.495G>A (p.Leu165=) rs761111018 0.00003
NM_015506.3(MMACHC):c.82-10T>C rs778416032 0.00003
NM_000255.4(MMUT):c.912-14C>T rs200394018 0.00002
NM_001081.4(CUBN):c.5841C>T (p.Ser1947=) rs199868206 0.00002
NM_005334.3(HCFC1):c.2394C>T (p.Ile798=) rs782244636 0.00002
NM_015506.3(MMACHC):c.574C>T (p.Leu192=) rs762919217 0.00002
NM_015506.3(MMACHC):c.606T>C (p.Asp202=) rs748881103 0.00002
NM_000019.4(ACAT1):c.1200T>C (p.His400=) rs748749897 0.00001
NM_000255.4(MMUT):c.1512A>G (p.Ala504=) rs762792688 0.00001
NM_000255.4(MMUT):c.2046T>C (p.Val682=) rs201456803 0.00001
NM_000255.4(MMUT):c.2082G>A (p.Arg694=) rs752705830 0.00001
NM_000255.4(MMUT):c.423G>A (p.Ala141=) rs547142339 0.00001
NM_000255.4(MMUT):c.954A>G (p.Glu318=) rs1471303851 0.00001
NM_001081.4(CUBN):c.1644T>C (p.Phe548=) rs559998744 0.00001
NM_001081.4(CUBN):c.1704C>G (p.Leu568=) rs752698463 0.00001
NM_001081.4(CUBN):c.2997A>G (p.Thr999=) rs762336429 0.00001
NM_001081.4(CUBN):c.4959G>A (p.Ala1653=) rs577984421 0.00001
NM_001081.4(CUBN):c.5469C>T (p.Ile1823=) rs754694753 0.00001
NM_001081.4(CUBN):c.9297C>T (p.Tyr3099=) rs754292924 0.00001
NC_000019.10:g.45529185C>T rs566450630
NM_000255.4(MMUT):c.754-7del rs750770186
NM_001081.4(CUBN):c.3528C>T (p.Phe1176=)
NM_001081.4(CUBN):c.4212C>T (p.Ser1404=) rs544694254
NM_001081.4(CUBN):c.5911C>A (p.Pro1971Thr) rs2356590
NM_001081.4(CUBN):c.6364G>A (p.Val2122Ile)
NM_001081.4(CUBN):c.909C>T (p.Cys303=)
NM_001081.4(CUBN):c.9339C>T (p.Cys3113=)
NM_001243279.3(ACSF3):c.667-9C>T rs369865917
NM_015506.3(MMACHC):c.259C>T (p.Leu87=) rs776402014
NM_015506.3(MMACHC):c.277-4C>A rs199889403
NM_015506.3(MMACHC):c.615C>T (p.Tyr205=) rs747527726
NM_015506.3(MMACHC):c.631C>A (p.Pro211Thr)
NM_015506.3(MMACHC):c.651A>G (p.Glu217=) rs948189041
NM_015506.3(MMACHC):c.729T>C (p.Pro243=) rs891106099
NM_015506.3(MMACHC):c.801G>A (p.Arg267=) rs751017212
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu) rs115459512

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.