ClinVar Miner

List of variants studied for Congenital disorder of glycosylation type 1E by Invitae

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Total variants: 33
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HGVS dbSNP
NC_000020.10:g.(?_49551401)_(49575111_?)del
NC_000020.10:g.(?_49557382)_(49558683_?)del
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) rs1040795570
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.331_343del (p.Gly111fs) rs1272097668
NM_003859.2(DPM1):c.339C>T (p.Tyr113=) rs749555898
NM_003859.2(DPM1):c.384T>C (p.Ile128=) rs1555822595
NM_003859.2(DPM1):c.385C>A (p.Pro129Thr) rs752831768
NM_003859.2(DPM1):c.385C>T (p.Pro129Ser)
NM_003859.2(DPM1):c.409G>T (p.Glu137Ter) rs753780084
NM_003859.2(DPM1):c.413G>A (p.Gly138Asp) rs373944766
NM_003859.2(DPM1):c.455G>T (p.Gly152Val) rs587777116
NM_003859.2(DPM1):c.52G>C (p.Glu18Gln) rs11553474
NM_003859.2(DPM1):c.579A>C (p.Glu193Asp)
NM_003859.2(DPM1):c.59G>T (p.Arg20Leu) rs376257244
NM_003859.2(DPM1):c.61A>G (p.Ser21Gly) rs148674319
NM_003859.2(DPM1):c.679-7A>T rs60224379
NM_003859.2(DPM1):c.685A>G (p.Ile229Val) rs559946698
NM_003859.2(DPM1):c.757T>G (p.Leu253Val) rs773403940
NM_003859.2(DPM1):c.763A>G (p.Thr255Ala)
NM_003859.2(DPM1):c.779C>T (p.Thr260Ile) rs146262101
NM_003859.2(DPM1):c.84G>A (p.Ser28=) rs16995639

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