ClinVar Miner

List of variants reported as benign for congenital disorder of glycosylation type I by Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen

Included ClinVar conditions (31):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146
NM_000303.3(PMM2):c.447+19T>C rs11074924
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_001007027.2(ALG8):c.*272A>G rs1263505
NM_002435.3(MPI):c.1131A>G (p.Val377=) rs1130741
NM_002435.3(MPI):c.345+15G>A rs11638130
NM_002435.3(MPI):c.670+9A>G rs7495739
NM_003863.3(DPM2):c.213T>C (p.Tyr71=) rs6781
NM_003863.3(DPM2):c.227C>G (p.Thr76Ser) rs7997
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278

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