ClinVar Miner

List of variants studied for disorder of multiple glycosylation by Mendelics

Included ClinVar conditions (30):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_015386.3(COG4):c.485C>T (p.Thr162Ile) rs3931036 0.95397
NM_015386.3(COG4):c.1314+86A>C rs2303791 0.62527
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu) rs144692793 0.00569
NM_020751.3(COG6):c.358A>G (p.Ser120Gly) rs139313781 0.00280
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421 0.00063
NM_006363.6(SEC23B):c.74C>A (p.Pro25His) rs6045440 0.00050
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln) rs139332887 0.00028
NM_003859.3(DPM1):c.1A>C (p.Met1Leu) rs139624629 0.00003
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter) rs775380378 0.00003
NM_001497.4(B4GALT1):c.5G>C (p.Arg2Thr) rs1587756000
NM_003859.3(DPM1):c.649G>A (p.Ala217Thr) rs1197456861
NM_004341.5(CAD):c.571C>T (p.Arg191Ter) rs1572423883
NM_005660.3(SLC35A2):c.128T>C (p.Leu43Pro) rs1602344901
NM_005660.3(SLC35A2):c.1A>T (p.Met1Leu) rs1042469070
NM_005660.3(SLC35A2):c.389_391del (p.Tyr130_Val131delinsPhe) rs1602340350
NM_005660.3(SLC35A2):c.520CTC[1] (p.Leu175del) rs1602338996
NM_018714.3(COG1):c.2665dup (p.Arg889fs) rs747606976
NM_020751.3(COG6):c.154-2A>G rs1593402927
NM_024592.5(SRD5A3):c.697+1G>C rs1719958144

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