ClinVar Miner

List of variants in gene combination ADNP, 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: 7
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HGVS dbSNP
NC_000020.10:g.(?_49557382)_(49558683_?)del
NM_003859.2(DPM1):c.413G>A (p.Gly138Asp)
NM_003859.2(DPM1):c.579A>C (p.Glu193Asp)
NM_003859.2(DPM1):c.685A>G (p.Ile229Val)
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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