ClinVar Miner

List of variants in gene MPDU1 reported as likely benign for congenital disorder of glycosylation type I

Included ClinVar conditions (40):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_004870.4(MPDU1):c.662C>G (p.Ser221Cys) rs147742866 0.00227
NM_004870.4(MPDU1):c.43C>T (p.Pro15Ser) rs148935720 0.00116
NM_004870.4(MPDU1):c.537C>T (p.Asn179=) rs149675859 0.00029
NM_004870.4(MPDU1):c.636G>C (p.Leu212=) rs148586387 0.00007
NM_004870.4(MPDU1):c.12G>A (p.Glu4=) rs146631664 0.00006
NM_004870.4(MPDU1):c.121C>G (p.Leu41Val) rs199498675 0.00002
NM_004870.4(MPDU1):c.652G>T (p.Val218Leu) rs142953652 0.00002
NM_004870.4(MPDU1):c.672C>T (p.Asn224=) rs535356783 0.00002
NM_004870.4(MPDU1):c.103+19C>T rs1320410758 0.00001
NM_004870.4(MPDU1):c.648C>T (p.Thr216=) rs760109502 0.00001
NM_004870.4(MPDU1):c.303-9A>G rs763924892
NM_004870.4(MPDU1):c.468G>A (p.Leu156=)
NM_004870.4(MPDU1):c.582T>C (p.Phe194=) rs763418089
NM_004870.4(MPDU1):c.591C>G (p.Ser197=) rs2150936245
NM_004870.4(MPDU1):c.619-17C>G

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