ClinVar Miner

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

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Total variants: 7
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HGVS dbSNP
DPM1, 13-BP DEL
NC_000020.11:g.(50936263_50940865)_(50948664_50955185)del
NM_003859.2(DPM1):c.274C>G (p.Arg92Gly) rs121908583
NM_003859.2(DPM1):c.373-5T>A rs587777115
NM_003859.2(DPM1):c.455G>T (p.Gly152Val) rs587777116
NM_003859.2(DPM1):c.628del (p.Gln210fs) rs1568757730
NM_003859.2(DPM1):c.742T>C (p.Ser248Pro) rs587777114

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