ClinVar Miner

List of variants reported as pathogenic for congenital disorder of glycosylation type II by Baylor Genetics

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_006302.3(MOGS):c.370C>T (p.Gln124Ter) rs587777323 0.00007
NM_032357.4(CCDC115):c.92T>C (p.Leu31Ser) rs751325113 0.00004
NM_006348.5(COG5):c.847C>T (p.Arg283Ter) rs548774836 0.00002
NM_005660.3(SLC35A2):c.340A>T (p.Lys114Ter) rs2063491273
NM_005660.3(SLC35A2):c.617_620del (p.Val206fs) rs1057518719
NM_020751.3(COG6):c.1167-24A>G rs730882236

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