ClinVar Miner

List of variants reported as benign for disorder of multiple glycosylation by Illumina Laboratory Services, Illumina

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 99
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006363.6(SEC23B):c.1233+9A>G rs6081189 0.91788
NM_018389.5(SLC35C1):c.*1158C>T rs4756027 0.84749
NM_003863.4(DPM2):c.213T>C (p.Tyr71=) rs6781 0.80380
NM_003863.3(DPM2):c.-152A>G rs6478802 0.79362
NM_003863.3(DPM2):c.-628A>G rs3758327 0.79360
NM_003863.4(DPM2):c.227C>G (p.Thr76Ser) rs7997 0.79357
NM_018389.5(SLC35C1):c.*1312T>C rs7943306 0.79007
NM_005476.7(GNE):c.*2391C>T rs1043313 0.71766
NM_024592.5(SRD5A3):c.*2589G>A rs819271 0.71550
NM_004870.4(MPDU1):c.*308G>T rs4227 0.67099
NM_024592.5(SRD5A3):c.*1069G>A rs501679 0.65365
NM_006348.5(COG5):c.895T>C (p.Phe299Leu) rs2269970 0.64619
NM_018389.5(SLC35C1):c.*49G>A rs1139266 0.63052
NM_018714.3(COG1):c.1175A>G (p.Asn392Ser) rs1026128 0.50958
NM_018714.3(COG1):c.543A>G (p.Ala181=) rs11544800 0.43890
NM_018714.3(COG1):c.333G>A (p.Gln111=) rs1052706 0.43844
NM_020751.3(COG6):c.94T>A (p.Cys32Ser) rs3812883 0.43470
NM_020751.3(COG6):c.*80C>T rs4245396 0.40944
NM_020751.3(COG6):c.*1052A>G rs9943 0.35836
NM_024592.5(SRD5A3):c.*321C>T rs13149568 0.35130
NM_153603.4(COG7):c.*187A>G rs250588 0.31336
NM_032382.5(COG8):c.42A>G (p.Thr14=) rs11542583 0.30947
NM_020751.3(COG6):c.1009+9A>G rs4129745 0.28442
NM_024592.5(SRD5A3):c.*2005T>C rs819269 0.27879
NM_024592.5(SRD5A3):c.*70C>T rs2538 0.27858
NM_024592.5(SRD5A3):c.*546G>A rs573960 0.27847
NM_024592.5(SRD5A3):c.*2368G>A rs819270 0.27839
NM_024592.5(SRD5A3):c.*879C>T rs576732 0.27835
NM_018389.5(SLC35C1):c.-3A>G rs3808976 0.27016
NM_006348.5(COG5):c.347+4C>A rs2066735 0.26803
NM_153603.4(COG7):c.*47C>T rs250587 0.21141
NM_018389.5(SLC35C1):c.*1315C>T rs55758172 0.19265
NM_018389.5(SLC35C1):c.*1074C>T rs4756026 0.19261
NM_005476.7(GNE):c.*1781G>A rs16933086 0.17302
NM_018389.5(SLC35C1):c.-303G>C rs12289963 0.17005
NM_006348.5(COG5):c.*828C>G rs7981 0.15427
NM_006348.5(COG5):c.1689T>G (p.Val563=) rs17349904 0.15364
NM_004870.4(MPDU1):c.685G>A (p.Ala229Thr) rs10852891 0.14975
NM_018714.3(COG1):c.1473C>T (p.Ser491=) rs1551036 0.13412
NM_018389.5(SLC35C1):c.718A>G (p.Ile240Val) rs7130656 0.12992
NM_006363.6(SEC23B):c.1467C>G (p.His489Gln) rs2273526 0.12707
NM_018389.5(SLC35C1):c.-632G>A rs77254044 0.11737
NM_003859.3(DPM1):c.679-7A>T rs60224379 0.11090
NM_006363.6(SEC23B):c.1298C>T (p.Pro433Leu) rs17807673 0.10334
NM_005476.7(GNE):c.*1826G>C rs7044157 0.10230
NM_153603.4(COG7):c.2103T>C (p.Pro701=) rs8057712 0.09257
NM_006363.6(SEC23B):c.1405-7C>T rs2273525 0.09089
NM_018389.5(SLC35C1):c.*1580C>T rs10838518 0.07780
NM_153603.4(COG7):c.1814C>T (p.Thr605Met) rs16940094 0.07374
NM_018714.3(COG1):c.1357G>C (p.Glu453Gln) rs62621249 0.06636
NM_006348.5(COG5):c.1000A>G (p.Ile334Val) rs34087251 0.06004
NM_032382.5(COG8):c.*330G>T rs1055399 0.05747
NM_032382.5(COG8):c.*332A>T rs1055401 0.05746
NM_018389.5(SLC35C1):c.*414G>A rs1139267 0.05406
NM_020751.3(COG6):c.1340T>C (p.Met447Thr) rs41286961 0.05379
NM_005476.7(GNE):c.*630C>T rs150102934 0.03992
NM_018389.5(SLC35C1):c.*955C>A rs76564550 0.03946
NM_024592.5(SRD5A3):c.*2063G>A rs73236134 0.03578
NM_024592.5(SRD5A3):c.*1706G>A rs147485112 0.03469
NM_006348.5(COG5):c.1827C>T (p.Ile609=) rs35581984 0.03303
NM_004870.4(MPDU1):c.673G>A (p.Gly225Ser) rs16956808 0.03297
NM_006363.6(SEC23B):c.2061G>T (p.Leu687=) rs7262532 0.03235
NM_020751.3(COG6):c.1693-6A>T rs78336861 0.03077
NM_005476.7(GNE):c.600C>T (p.Ile200=) rs7047950 0.02902
NC_000007.14:g.107563926C>T rs73419464 0.02557
NM_005476.7(GNE):c.*1054C>A rs7048468 0.01927
NM_014908.4(DOLK):c.-49A>G rs116439010 0.01852
NM_006348.5(COG5):c.1257A>G (p.Leu419=) rs74443110 0.01554
NM_006348.3(COG5):c.-387C>G rs115371930 0.01547
NM_024592.5(SRD5A3):c.*1859C>T rs1047343 0.01513
NM_006348.3(COG5):c.-6G>A rs55840928 0.01489
NM_024592.5(SRD5A3):c.*1601G>A rs111238066 0.01486
NM_018389.5(SLC35C1):c.-173C>T rs78455013 0.01481
NM_024592.5(SRD5A3):c.925C>G (p.His309Asp) rs61733673 0.01465
NM_024592.5(SRD5A3):c.-40G>A rs111568566 0.01461
NM_006363.6(SEC23B):c.-24C>T rs115614151 0.01204
NM_032382.5(COG8):c.1591C>T (p.Pro531Ser) rs76253513 0.01202
NM_006363.6(SEC23B):c.770C>T (p.Thr257Ile) rs146917730 0.01006
NM_032382.5(COG8):c.1589C>T (p.Pro530Leu) rs114861924 0.00951
NM_006363.6(SEC23B):c.*657A>G rs114937628 0.00723
NM_006363.6(SEC23B):c.1503C>T (p.Ile501=) rs147036760 0.00699
NM_006363.6(SEC23B):c.1484G>A (p.Arg495His) rs141588462 0.00677
NM_006363.6(SEC23B):c.816T>C (p.Ile272=) rs115177758 0.00677
NM_006363.6(SEC23B):c.490G>T (p.Val164Leu) rs36023150 0.00602
NM_006363.6(SEC23B):c.1649G>A (p.Arg550Gln) rs111572459 0.00474
NM_005476.7(GNE):c.*1068A>T rs187875852 0.00423
NM_032382.5(COG8):c.578T>C (p.Val193Ala) rs138647246 0.00304
NM_018389.5(SLC35C1):c.*1404G>A rs142012266 0.00295
NM_006363.6(SEC23B):c.2298C>T (p.Ala766=) rs77945587 0.00228
NM_004870.4(MPDU1):c.403G>C (p.Ala135Pro) rs137983973
NM_005476.7(GNE):c.*2156G>C rs2741725
NM_005476.7(GNE):c.*2196dup rs199874473
NM_005476.7(GNE):c.*936C>T rs56974443
NM_014908.3(DOLK):c.-404G>A rs3750324
NM_018389.5(SLC35C1):c.*1636G>A rs79173599
NM_018714.3(COG1):c.1782G>A (p.Glu594=) rs1037256
NM_020751.3(COG6):c.*1093G>T rs114184435
NM_020751.3(COG6):c.28G>A (p.Ala10Thr) rs3812882
NM_024592.5(SRD5A3):c.*968C>T rs78470512

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.