ClinVar Miner

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

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_002408.4(MGAT2):c.*366C>G rs1011373 0.02852
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836 0.01351
NM_018714.3(COG1):c.58G>C (p.Ala20Pro) rs142719529 0.01075
NM_181581.3(DUS4L):c.-111+78G>C rs80122402 0.01000
NM_006348.5(COG5):c.876T>G (p.Thr292=) rs74522314 0.00898
NM_153603.4(COG7):c.*9C>A rs139833665 0.00885
NM_018389.5(SLC35C1):c.*1208G>A rs115509471 0.00851
NM_018714.3(COG1):c.1049C>T (p.Thr350Met) rs117344829 0.00650
NM_006348.5(COG5):c.*678T>C rs149142658 0.00618
NM_006348.5(COG5):c.*293T>C rs6958494 0.00577
NM_018714.3(COG1):c.529A>G (p.Ile177Val) rs150001655 0.00545
NM_018714.3(COG1):c.2620-10T>G rs144989249 0.00513
NM_012257.4(HBP1):c.*974G>A rs115287891 0.00499
NM_018714.3(COG1):c.522T>C (p.Pro174=) rs75460067 0.00469
NM_006348.5(COG5):c.735T>A (p.Ile245=) rs116603307 0.00385
NM_001098832.2(VCF1):c.*1228G>A rs141573449 0.00381
NM_153603.4(COG7):c.534G>A (p.Glu178=) rs80204521 0.00330
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp) rs34623774 0.00327
NM_018389.4(SLC35C1):c.-665C>T rs530622849 0.00288
NM_020751.3(COG6):c.358A>G (p.Ser120Gly) rs139313781 0.00280
NM_018389.5(SLC35C1):c.*1569G>C rs139986610 0.00108
NM_006348.5(COG5):c.451A>G (p.Ile151Val) rs79413133 0.00091
NM_002408.4(MGAT2):c.768T>G (p.Leu256=) rs77872234 0.00086
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421 0.00063
NM_153603.4(COG7):c.406G>A (p.Ala136Thr) rs149163316 0.00059
NM_006348.5(COG5):c.1290C>A (p.Phe430Leu) rs184902233 0.00056
NM_002408.4(MGAT2):c.609T>C (p.Asn203=) rs147375948 0.00051
NM_020751.3(COG6):c.-53T>G rs534007509 0.00046
NM_032382.5(COG8):c.1724C>T (p.Thr575Ile) rs201914539 0.00034
NM_032382.5(COG8):c.1741C>A (p.Pro581Thr) rs548002506 0.00033
NM_153603.4(COG7):c.1852G>A (p.Ala618Thr) rs145412851 0.00031
NM_153603.4(COG7):c.835G>A (p.Val279Ile) rs367796897 0.00015
NM_032382.5(COG8):c.704T>C (p.Met235Thr) rs201646246 0.00005
NM_020751.3(COG6):c.69G>A (p.Gly23=) rs372786424 0.00003
NM_006348.5(COG5):c.*612G>C rs6958137
NM_018389.5(SLC35C1):c.*1636G>T rs79173599
NM_020751.3(COG6):c.*889T>A rs374465943
NM_153603.4(COG7):c.366C>T (p.Ala122=) rs74012178
NM_181581.3(DUS4L):c.-111+131C>T rs114481539

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