ClinVar Miner

List of variants reported as benign for PMM2-CDG

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP
NM_000303.3(PMM2):c.*1032C>A rs79686490
NM_000303.3(PMM2):c.*1259C>G rs78698557
NM_000303.3(PMM2):c.*136A>C rs2075827
NM_000303.3(PMM2):c.*166C>G
NM_000303.3(PMM2):c.*175G>A rs2072688
NM_000303.3(PMM2):c.*252C>A rs2075828
NM_000303.3(PMM2):c.*560A>G rs2447928
NM_000303.3(PMM2):c.*791G>C rs2437722
NM_000303.3(PMM2):c.*96G>C rs11554040
NM_000303.3(PMM2):c.*994A>T rs113234190
NM_000303.3(PMM2):c.*997A>G rs1056898
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146
NM_000303.3(PMM2):c.366C>T (p.Phe122=) rs145714866
NM_000303.3(PMM2):c.441C>T (p.Leu147=) rs146990448
NM_000303.3(PMM2):c.447+19T>C rs11074924
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985
NM_000303.3(PMM2):c.93C>T (p.Phe31=) rs61730638

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