ClinVar Miner

List of variants reported as uncertain significance for congenital disorder of glycosylation type II by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (28):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_006302.3(MOGS):c.1851T>A (p.His617Gln) rs199939051 0.00079
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) rs186476316 0.00076
NM_006302.3(MOGS):c.1124C>T (p.Thr375Ile) rs200888878 0.00068
NM_006302.3(MOGS):c.1826G>A (p.Arg609His) rs377287243 0.00014
NM_005765.3(ATP6AP2):c.490G>A (p.Val164Ile) rs142013283 0.00011
NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys) rs11552539 0.00007
NM_006302.3(MOGS):c.1835C>G (p.Thr612Arg) rs371586378
NM_018389.5(SLC35C1):c.402C>T (p.Cys134=) rs955606062

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