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 (40):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_024079.4(ALG8):c.*20A>G rs1263505 0.86211
NM_003863.4(DPM2):c.213T>C (p.Tyr71=) rs6781 0.80380
NM_003863.4(DPM2):c.227C>G (p.Thr76Ser) rs7997 0.79357
NM_002435.3(MPI):c.1131A>G (p.Val377=) rs1130741 0.45813
NM_002435.3(MPI):c.345+15G>A rs11638130 0.35866
NM_024079.5(ALG8):c.665A>G (p.Asn222Ser) rs665278 0.17617
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146 0.01239
NM_000303.3(PMM2):c.447+19T>C rs11074924
NM_002435.3(MPI):c.670+9A>G rs7495739

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