ClinVar Miner

List of variants reported as likely pathogenic for PMM2-CDG by Invitae

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP
NC_000016.10:g.(?_8811069)_(8832245_?)del
NC_000016.10:g.(?_8847701)_(8847835_?)del
NC_000016.10:g.(?_8847701)_(8847845_?)del
NM_000303.3(PMM2):c.178+1G>A
NM_000303.3(PMM2):c.256-2A>G rs1057516372
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys) rs746610168
NM_000303.3(PMM2):c.448-1_448del
NM_000303.3(PMM2):c.44G>C (p.Gly15Ala) rs958073558
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr) rs150577656
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) rs760265100
NM_000303.3(PMM2):c.640-9T>G rs370160676
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys) rs558826439
NM_000303.3(PMM2):c.687C>G (p.Tyr229Ter) rs148759949
NM_000303.3(PMM2):c.703G>T (p.Glu235Ter) rs763091085

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