ClinVar Miner

List of variants in gene ADNP, DPM1 studied 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: 14
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HGVS dbSNP
NC_000020.10:g.(?_49551401)_(49575111_?)del
NC_000020.10:g.(?_49557382)_(49558683_?)del
NC_000020.11:g.(50936263_50940865)_(50948664_50955185)del
NM_003859.2(DPM1):c.409G>T (p.Glu137Ter) rs753780084
NM_003859.2(DPM1):c.413G>A (p.Gly138Asp)
NM_003859.2(DPM1):c.455G>T (p.Gly152Val) rs587777116
NM_003859.2(DPM1):c.579A>C (p.Glu193Asp)
NM_003859.2(DPM1):c.628del (p.Gln210fs) rs1568757730
NM_003859.2(DPM1):c.679-7A>T rs60224379
NM_003859.2(DPM1):c.685A>G (p.Ile229Val)
NM_003859.2(DPM1):c.742T>C (p.Ser248Pro) rs587777114
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

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