ClinVar Miner

List of variants studied for ALG6-congenital disorder of glycosylation 1C by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 61
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_013339.4(ALG6):c.*761T>C rs3009572 0.60547
NM_013339.4(ALG6):c.-136C>G rs34542411 0.20075
NM_013339.4(ALG6):c.981T>C (p.Phe327=) rs75451833 0.04164
NM_013339.4(ALG6):c.*1322A>G rs75309742 0.04045
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_013339.4(ALG6):c.*844T>C rs2884922 0.02393
NM_013339.4(ALG6):c.726C>T (p.Phe242=) rs59848367 0.02294
NM_013339.4(ALG6):c.678G>T (p.Lys226Asn) rs35604168 0.01480
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val) rs41285372 0.01295
NM_013339.4(ALG6):c.*268C>T rs114111123 0.01221
NM_013339.4(ALG6):c.-121T>G rs116034504 0.00994
NM_013339.4(ALG6):c.*1415T>G rs148327539 0.00827
NM_013339.4(ALG6):c.*1434T>C rs141443584 0.00822
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078 0.00791
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala) rs61755863 0.00705
NM_013339.4(ALG6):c.*1136C>T rs143324400 0.00429
NM_013339.4(ALG6):c.*961C>T rs144020923 0.00415
NM_013339.4(ALG6):c.-207-12T>C rs183861757 0.00186
NM_013339.4(ALG6):c.1398A>T (p.Leu466=) rs140158304 0.00167
NM_013339.4(ALG6):c.*404T>C rs138529811 0.00045
NM_013339.4(ALG6):c.1452C>T (p.Phe484=) rs150298974 0.00044
NM_013339.4(ALG6):c.*47A>T rs372767276 0.00026
NM_013339.4(ALG6):c.882T>C (p.Arg294=) rs145894044 0.00020
NM_013339.4(ALG6):c.*1169G>A rs536772187 0.00017
NM_013339.4(ALG6):c.370T>G (p.Tyr124Asp) rs562509297 0.00011
NM_013339.4(ALG6):c.482A>G (p.Tyr161Cys) rs201354339 0.00010
NM_013339.4(ALG6):c.*1004C>A rs886046477 0.00008
NM_013339.4(ALG6):c.*670G>A rs367589530 0.00007
NM_013339.4(ALG6):c.-141A>G rs1054104046 0.00006
NM_013339.4(ALG6):c.1314T>C (p.Ile438=) rs146939069 0.00006
NM_013339.4(ALG6):c.950T>C (p.Ile317Thr) rs376087919 0.00006
NM_013339.4(ALG6):c.*1313T>C rs372013109 0.00005
NM_013339.4(ALG6):c.-120C>T rs1016079273 0.00004
NM_013339.4(ALG6):c.-128C>T rs188685870 0.00004
NM_013339.4(ALG6):c.156G>A (p.Pro52=) rs751004049 0.00004
NM_013339.4(ALG6):c.167+7T>C rs374146302 0.00004
NM_013339.4(ALG6):c.*1137G>A rs886046478 0.00003
NM_013339.4(ALG6):c.52C>T (p.Arg18Ter) rs755933716 0.00003
NM_013339.4(ALG6):c.998C>T (p.Ala333Val) rs121908443 0.00003
NM_013339.4(ALG6):c.*1464A>C rs1316941453 0.00001
NM_013339.4(ALG6):c.*152T>C rs886046473 0.00001
NM_013339.4(ALG6):c.*174A>G rs886046474 0.00001
NM_013339.4(ALG6):c.*436T>C rs550372028 0.00001
NM_013339.4(ALG6):c.101T>C (p.Met34Thr) rs750689981 0.00001
NM_013339.4(ALG6):c.155C>T (p.Pro52Leu) rs201074540 0.00001
NM_013339.4(ALG6):c.302G>A (p.Arg101His) rs760245924 0.00001
NM_013339.4(ALG6):c.328C>G (p.Leu110Val) rs753362025 0.00001
NM_013339.4(ALG6):c.430-9T>G rs769256352 0.00001
NM_013339.4(ALG6):c.648C>G (p.Gly216=) rs1270440540 0.00001
NM_013339.4(ALG6):c.671A>G (p.Lys224Arg) rs140879997 0.00001
NM_013339.4(ALG6):c.862A>G (p.Ile288Val) rs557790186 0.00001
NM_013339.4(ALG6):c.*1238A>C rs1644697712
NM_013339.4(ALG6):c.*454C>T rs903370494
NM_013339.4(ALG6):c.*89G>A rs531808380
NM_013339.4(ALG6):c.-208+10T>C rs1333912773
NM_013339.4(ALG6):c.-221C>G rs886046470
NM_013339.4(ALG6):c.1127+8A>C rs756307525
NM_013339.4(ALG6):c.450C>A (p.Ile150=) rs1644492796
NM_013339.4(ALG6):c.495A>G (p.Gln165=) rs886046471
NM_013339.4(ALG6):c.728T>C (p.Val243Ala) rs886046472

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.