ClinVar Miner

List of variants reported as benign for MPDU1-congenital disorder of glycosylation

Included ClinVar conditions (1):
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Total variants: 8
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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.618+14C>T rs11078699 0.00407
NM_004870.4(MPDU1):c.393C>T (p.Val131=) rs79286384 0.00178
NM_004870.4(MPDU1):c.411C>T (p.Tyr137=) rs142551371 0.00005
NM_004870.4(MPDU1):c.652G>T (p.Val218Leu) rs142953652 0.00002
NM_004870.4(MPDU1):c.403G>C (p.Ala135Pro) rs137983973

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