ClinVar Miner

List of variants in gene DPM1 reported as uncertain significance for congenital disorder of glycosylation type I

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_003859.2(DPM1):c.109C>A (p.Arg37Ser) rs369939483
NM_003859.2(DPM1):c.112G>A (p.Glu38Lys)
NM_003859.2(DPM1):c.168C>G (p.Ile56Met)
NM_003859.2(DPM1):c.173A>G (p.Tyr58Cys)
NM_003859.2(DPM1):c.173A>T (p.Tyr58Phe)
NM_003859.2(DPM1):c.19A>G (p.Ser7Gly)
NM_003859.2(DPM1):c.1A>C (p.Met1Leu)
NM_003859.2(DPM1):c.20G>A (p.Ser7Asn) rs776145598
NM_003859.2(DPM1):c.235G>C (p.Glu79Gln) rs760351795
NM_003859.2(DPM1):c.254A>G (p.Asp85Gly) rs1364834319
NM_003859.2(DPM1):c.25A>G (p.Ser9Gly)
NM_003859.2(DPM1):c.261T>A (p.Ile87=) rs774440510
NM_003859.2(DPM1):c.275G>A (p.Arg92Gln) rs1324570980
NM_003859.2(DPM1):c.385C>A (p.Pro129Thr)
NM_003859.2(DPM1):c.385C>T (p.Pro129Ser)
NM_003859.2(DPM1):c.52G>C (p.Glu18Gln)
NM_003859.2(DPM1):c.59G>T (p.Arg20Leu) rs376257244
NM_003859.2(DPM1):c.61A>G (p.Ser21Gly)

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