ClinVar Miner

List of variants reported as benign for MPDU1-congenital disorder of glycosylation by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_004870.4(MPDU1):c.*308G>T rs4227 0.67099
NM_004870.4(MPDU1):c.685G>A (p.Ala229Thr) rs10852891 0.14975
NM_004870.4(MPDU1):c.673G>A (p.Gly225Ser) rs16956808 0.03297
NM_004870.4(MPDU1):c.403G>C (p.Ala135Pro) rs137983973

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