ClinVar Miner

List of variants in gene PMM2 reported as benign

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Gene type:
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Total variants: 52
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HGVS dbSNP gnomAD frequency
NM_000303.3(PMM2):c.67-300A>T rs8046046 0.89511
NM_000303.3(PMM2):c.348-58_348-56dup rs1799772 0.87127
NM_000303.3(PMM2):c.447+187A>C rs4985001 0.85107
NM_000303.3(PMM2):c.447+147A>G rs4985041 0.85045
NM_000303.3(PMM2):c.178+299G>C rs2304470 0.47633
NM_000303.3(PMM2):c.178+327G>A rs2304469 0.43498
NM_000303.3(PMM2):c.524-275C>T rs3743809 0.41654
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.178+142C>A rs2304471 0.18660
NM_000303.3(PMM2):c.66+209C>T rs9939787 0.17150
NM_000303.3(PMM2):c.639+62C>T rs3743807 0.15368
NM_000303.3(PMM2):c.179-166A>G rs8053440 0.15215
NM_000303.3(PMM2):c.*96G>C rs11554040 0.14272
NM_000303.3(PMM2):c.66+180G>C rs73501483 0.09256
NM_000303.3(PMM2):c.67-120A>T rs12446822 0.08792
NM_000303.3(PMM2):c.255+111A>T rs77026919 0.06244
NM_000303.3(PMM2):c.347+172C>T rs17566708 0.04934
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.348-101C>T rs76295751 0.02945
NM_000303.3(PMM2):c.255+272C>T rs113451497 0.02715
NM_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
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.*17G>A rs9936097 0.00905
NM_000303.3(PMM2):c.640-46G>A rs113866602 0.00632
NM_000303.3(PMM2):c.347+40G>A rs142123453 0.00385
NM_000303.3(PMM2):c.639+19G>C rs145473288 0.00074
NM_000303.3(PMM2):c.640-13C>T rs372181885 0.00073
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.90C>G (p.Asp30Glu) rs201556985 0.00019
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808 0.00014
NM_000303.3(PMM2):c.441C>T (p.Leu147=) rs146990448 0.00010
NM_000303.3(PMM2):c.712C>T (p.Arg238Cys) rs142459706 0.00003
NM_000303.3(PMM2):c.*1032C>A rs79686490
NM_000303.3(PMM2):c.*791G>C rs2437722
NM_000303.3(PMM2):c.179-15dup rs145496357
NM_000303.3(PMM2):c.447+19T>C rs11074924
NM_000303.3(PMM2):c.524-309C>A rs3826198
NM_000303.3(PMM2):c.639+182G>T rs9924186
NM_000303.3(PMM2):c.640-15556A>C rs113832517
NM_000303.3(PMM2):c.640-280dup rs3833068
NM_000303.3(PMM2):c.640-28C>G rs181837170
NM_000303.3(PMM2):c.640-331dup rs34609525
NM_000303.3(PMM2):c.640-332_640-331dup rs34609525
NM_000303.3(PMM2):c.640-333_640-331dup rs34609525
NM_000303.3(PMM2):c.93C>T (p.Phe31=) rs61730638

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