ClinVar Miner

List of variants in gene PMM2 reported as likely benign by Illumina Laboratory Services, Illumina

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000303.2(PMM2):c.*1516C>G rs74008088 0.03504
NM_000303.3(PMM2):c.*1360C>T rs72766381 0.03294
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_000303.3(PMM2):c.*534G>A rs2447929 0.01770
NM_000303.3(PMM2):c.*17G>A rs9936097 0.00905
NM_000303.3(PMM2):c.*915T>A rs114954775 0.00441
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472 0.00035
NM_000303.3(PMM2):c.366C>T (p.Phe122=) rs145714866 0.00027
NM_000303.3(PMM2):c.*1224C>A rs74008087

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