ClinVar Miner

List of variants studied for congenital disorder of glycosylation type II by Genome-Nilou Lab

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_018714.3(COG1):c.1282-48T>C rs1026130 0.98047
NM_015386.3(COG4):c.485C>T (p.Thr162Ile) rs3931036 0.95397
NM_005765.3(ATP6AP2):c.534+45G>C rs3112299 0.91713
NM_018714.3(COG1):c.2383-17T>C rs3829571 0.91491
NM_018475.5(TMEM165):c.18A>G (p.Pro6=) rs1128141 0.71708
NM_020751.3(COG6):c.297+47C>T rs7330016 0.65748
NM_006348.5(COG5):c.895T>C (p.Phe299Leu) rs2269970 0.64619
NM_018389.5(SLC35C1):c.*49G>A rs1139266 0.63052
NM_006416.5(SLC35A1):c.-18G>C rs9450704 0.59575
NM_018714.3(COG1):c.1175A>G (p.Asn392Ser) rs1026128 0.50958
NM_018714.2(COG1):c.-27A>G rs3764359 0.50887
NM_015386.3(COG4):c.2142G>A (p.Ser714=) rs11054 0.47870
NM_015386.3(COG4):c.1482-25T>C rs2303793 0.46944
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_015386.3(COG4):c.646C>T (p.Leu216=) rs3762171 0.38086
NM_001497.4(B4GALT1):c.648+102C>T rs913214 0.35792
NM_018475.5(TMEM165):c.899-15T>C rs7660517 0.33010
NM_001135146.2(SLC39A8):c.552+48C>T rs1462947 0.30373
NM_018475.5(TMEM165):c.*2_*3del rs35154686 0.29449
NM_018389.5(SLC35C1):c.-3A>G rs3808976 0.27016
NM_006348.5(COG5):c.949-18A>G rs12536603 0.15851
NM_006348.5(COG5):c.1689T>G (p.Val563=) rs17349904 0.15364
NM_001497.4(B4GALT1):c.597C>T (p.His199=) rs1065765 0.05834
NM_001135146.2(SLC39A8):c.218dup (p.Cys74fs) rs2149060093
NM_015077.4(SARM1):c.549= (p.Ser183=)
NM_018714.3(COG1):c.1782G>A (p.Glu594=) rs1037256
NM_020751.3(COG6):c.28G>A (p.Ala10Thr) rs3812882

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