ClinVar Miner

List of variants reported as likely benign for congenital disorder of glycosylation type I by Illumina Laboratory Services, Illumina

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 63
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HGVS dbSNP gnomAD frequency
NM_002633.3(PGM1):c.661C>T (p.Arg221Cys) rs1126728 0.22903
NM_002633.3(PGM1):c.*198C>T rs10909 0.18377
NM_002633.3(PGM1):c.*93A>C rs4643 0.17191
NM_002633.3(PGM1):c.1501G>A (p.Val501Ile) rs6676290 0.04986
NM_002633.3(PGM1):c.1145-7C>G rs72922609 0.04055
NM_000303.3(PMM2):c.*1360C>T rs72766381 0.03294
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_002633.3(PGM1):c.1280+7C>T rs72922610 0.02818
NM_002633.3(PGM1):c.*37G>A rs61765314 0.02669
NM_002633.3(PGM1):c.399T>C (p.Ile133=) rs1126727 0.02624
NM_024592.5(SRD5A3):c.*275G>T rs145768388 0.02343
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_024740.2(ALG9):c.*1220C>T rs114406340 0.01795
NM_000303.3(PMM2):c.*534G>A rs2447929 0.01770
NM_002633.3(PGM1):c.1500C>T (p.Ile500=) rs61737416 0.01523
NM_024079.5(ALG8):c.803G>A (p.Arg268Gln) rs61995925 0.01476
NM_052859.4(RFT1):c.64-14C>T rs78419624 0.01456
NM_001382.4(DPAGT1):c.*427T>G rs28990975 0.01379
NM_024105.4(ALG12):c.469+13C>T rs78916708 0.01349
NM_002633.3(PGM1):c.*406T>C rs11557104 0.01321
NM_013339.4(ALG6):c.1357C>G (p.Leu453Val) rs41285372 0.01295
NM_003863.3(DPM2):c.-382C>T rs112813338 0.01257
NM_013339.4(ALG6):c.*268C>T rs114111123 0.01221
NM_005787.6(ALG3):c.319A>G (p.Ile107Val) rs2233463 0.01115
NM_003863.4(DPM2):c.183G>A (p.Leu61=) rs11552794 0.01027
NM_013339.4(ALG6):c.-121T>G rs116034504 0.00994
NM_003863.4(DPM2):c.177C>T (p.Leu59=) rs35334863 0.00922
NM_000303.3(PMM2):c.*17G>A rs9936097 0.00905
NM_052859.4(RFT1):c.*799T>A rs148552528 0.00885
NM_024105.4(ALG12):c.939C>T (p.Ile313=) rs114335781 0.00874
NM_024592.5(SRD5A3):c.*2984A>G rs73816266 0.00855
NM_013339.4(ALG6):c.*1415T>G rs148327539 0.00827
NM_013339.4(ALG6):c.*1434T>C rs141443584 0.00822
NM_024740.2(ALG9):c.*3750A>C rs114397288 0.00792
NM_013339.4(ALG6):c.1323T>C (p.Tyr441=) rs116660078 0.00791
NM_003859.3(DPM1):c.84G>C (p.Ser28=) rs16995639 0.00708
NM_013339.4(ALG6):c.751A>G (p.Thr251Ala) rs61755863 0.00705
NM_024079.5(ALG8):c.896T>C (p.Ile299Thr) rs61995922 0.00615
NM_002435.3(MPI):c.982C>T (p.Arg328Trp) rs117089191 0.00577
NM_024105.4(ALG12):c.645G>A (p.Pro215=) rs12167668 0.00577
NM_024105.4(ALG12):c.698G>A (p.Arg233Gln) rs114264124 0.00516
NM_024105.4(ALG12):c.631C>T (p.Arg211Cys) rs144665682 0.00490
NM_000303.3(PMM2):c.*915T>A rs114954775 0.00441
NM_013339.4(ALG6):c.*1136C>T rs143324400 0.00429
NM_013339.4(ALG6):c.*961C>T rs144020923 0.00415
NM_021645.6(UTP14C):c.-42G>A rs140978619 0.00414
NM_024105.4(ALG12):c.48G>C (p.Leu16=) rs143508665 0.00377
NM_024740.2(ALG9):c.*2743T>C rs139048490 0.00222
NM_005787.6(ALG3):c.1271C>T (p.Pro424Leu) rs79144888 0.00178
NM_024592.5(SRD5A3):c.*621C>T rs548604752 0.00096
NM_002435.3(MPI):c.1049C>T (p.Thr350Met) rs116933453 0.00095
NM_024740.2(ALG9):c.*971C>T rs140187723 0.00090
NM_013339.4(ALG6):c.1452C>T (p.Phe484=) rs150298974 0.00044
NM_014908.4(DOLK):c.1450A>G (p.Ile484Val) rs147630977 0.00044
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472 0.00035
NM_005787.6(ALG3):c.669C>T (p.Leu223=) rs146607327 0.00034
NM_002435.3(MPI):c.214A>C (p.Ser72Arg) rs146699267 0.00031
NM_000303.3(PMM2):c.366C>T (p.Phe122=) rs145714866 0.00027
NM_052859.4(RFT1):c.632C>T (p.Thr211Ile) rs148289202 0.00020
NM_052859.4(RFT1):c.924G>A (p.Leu308=) rs140603849 0.00009
NM_004870.4(MPDU1):c.652G>T (p.Val218Leu) rs142953652 0.00002
NM_052859.4(RFT1):c.*240T>C rs534506262 0.00001
NM_000303.3(PMM2):c.*1224C>A rs74008087

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