ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.*252C>A rs2075828 0.41543
NM_000303.3(PMM2):c.*997A>G rs1056898 0.28325
NM_000303.3(PMM2):c.*175G>A rs2072688 0.26303
NM_000303.3(PMM2):c.*136A>C rs2075827 0.24978
NM_000303.3(PMM2):c.*96G>C rs11554040 0.14272
NM_000303.3(PMM2):c.*1259C>G rs78698557 0.04619
NM_000303.3(PMM2):c.*560A>G rs2447928 0.04419
NM_000303.3(PMM2):c.*994A>T rs113234190 0.01373
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146 0.01239
NM_000303.3(PMM2):c.*166C>G rs115474235 0.00982
NM_000303.3(PMM2):c.*1032C>A rs79686490
NM_000303.3(PMM2):c.*791G>C rs2437722

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