ClinVar Miner

List of variants in gene PMM2 reported by GeneDx

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Gene type:
ClinVar version:
Total variants: 121
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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.*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.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.640-15215C>T rs143727592 0.01564
NM_000303.3(PMM2):c.640-15672C>T rs114648316 0.01560
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.255+153A>G rs79544149 0.00770
NM_000303.3(PMM2):c.639+30T>C rs76786263 0.00700
NM_000303.3(PMM2):c.67-119T>A rs145725429 0.00682
NM_000303.3(PMM2):c.639+57A>G rs113688413 0.00657
NM_000303.3(PMM2):c.640-46G>A rs113866602 0.00632
NM_000303.3(PMM2):c.523+52T>A rs112454015 0.00612
NM_000303.3(PMM2):c.256-133G>A rs8060683 0.00536
NM_000303.3(PMM2):c.447+22T>A rs137862339 0.00475
NM_000303.3(PMM2):c.640-15606C>T rs190685535 0.00440
NM_000303.3(PMM2):c.524-141A>C rs151251334 0.00434
NM_000303.3(PMM2):c.639+70C>G rs150243626 0.00408
NM_000303.3(PMM2):c.347+40G>A rs142123453 0.00385
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415 0.00338
NM_000303.3(PMM2):c.178+21T>G rs149626737 0.00255
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.524-30G>A rs189031794 0.00051
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996 0.00042
NM_000303.3(PMM2):c.110A>T (p.Gln37Leu) rs2304472 0.00035
NM_000303.3(PMM2):c.713G>A (p.Arg238His) rs151319324 0.00035
NM_000303.3(PMM2):c.366C>T (p.Phe122=) rs145714866 0.00027
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser) rs80338709 0.00027
NM_000303.3(PMM2):c.*19G>A rs375731567 0.00020
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985 0.00019
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002 0.00017
NM_000303.3(PMM2):c.*10G>A rs200930493 0.00015
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter) rs764353860 0.00014
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn) rs148032587 0.00014
NM_000303.3(PMM2):c.149A>T (p.Glu50Val) rs182336960 0.00012
NM_000303.3(PMM2):c.66+5G>A rs375808631 0.00010
NM_000303.3(PMM2):c.255+2T>C rs139716296 0.00007
NM_000303.3(PMM2):c.*2G>A rs773232556 0.00006
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105 0.00006
NM_000303.3(PMM2):c.347+5G>A rs1373876757 0.00005
NM_000303.3(PMM2):c.*18C>T rs200464135 0.00004
NM_000303.3(PMM2):c.24del (p.Cys9fs) rs768021123 0.00004
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys) rs746610168 0.00004
NM_000303.3(PMM2):c.447+4C>T rs537238935 0.00004
NM_000303.3(PMM2):c.691G>A (p.Val231Met) rs80338707 0.00004
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701 0.00003
NM_000303.3(PMM2):c.445A>G (p.Lys149Glu) rs141808258 0.00003
NM_000303.3(PMM2):c.597C>T (p.Asp199=) rs376412367 0.00003
NM_000303.3(PMM2):c.367C>T (p.Arg123Ter) rs191295403 0.00002
NM_000303.3(PMM2):c.447+5G>A rs367852554 0.00002
NM_000303.3(PMM2):c.484C>T (p.Arg162Trp) rs104894526 0.00002
NM_000303.3(PMM2):c.-1dup (p.Met1fs) rs1348674721 0.00001
NM_000303.3(PMM2):c.124G>A (p.Gly42Arg) rs755402538 0.00001
NM_000303.3(PMM2):c.178G>T (p.Val60Leu) rs759513930 0.00001
NM_000303.3(PMM2):c.255G>A (p.Gln85=) rs115344041 0.00001
NM_000303.3(PMM2):c.310C>G (p.Leu104Val) rs770458492 0.00001
NM_000303.3(PMM2):c.323C>T (p.Ala108Val) rs200503569 0.00001
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu) rs80338700 0.00001
NM_000303.3(PMM2):c.348-8A>G rs186061775 0.00001
NM_000303.3(PMM2):c.43G>A (p.Gly15Arg) rs767831048 0.00001
NM_000303.3(PMM2):c.458T>C (p.Ile153Thr) rs150577656 0.00001
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser) rs760265100 0.00001
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141 0.00001
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter) rs149530060 0.00001
NM_000303.3(PMM2):c.-15C>G rs202199014
NM_000303.3(PMM2):c.-167G>T rs1596481676
NM_000303.3(PMM2):c.-35A>T rs766596446
NM_000303.3(PMM2):c.157C>T (p.Gln53Ter) rs1057520708
NM_000303.3(PMM2):c.160dup (p.Glu54fs) rs753122961
NM_000303.3(PMM2):c.179-15dup rs145496357
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser) rs769648248
NM_000303.3(PMM2):c.235G>C (p.Gly79Arg)
NM_000303.3(PMM2):c.255+278G>A rs140181592
NM_000303.3(PMM2):c.324del (p.Ile110fs) rs1555449314
NM_000303.3(PMM2):c.337C>A (p.Pro113Thr) rs765433263
NM_000303.3(PMM2):c.348-19G>A rs1057523353
NM_000303.3(PMM2):c.385G>A (p.Val129Met) rs104894525
NM_000303.3(PMM2):c.392del (p.Pro131fs) rs1555449607
NM_000303.3(PMM2):c.40G>A (p.Asp14Asn) rs1473030550
NM_000303.3(PMM2):c.415G>A (p.Glu139Lys) rs80338703
NM_000303.3(PMM2):c.447+19T>C rs11074924
NM_000303.3(PMM2):c.448-20dup rs1555449656
NM_000303.3(PMM2):c.523+139A>G rs7194925
NM_000303.3(PMM2):c.524-309C>A rs3826198
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs) rs2060686245
NM_000303.3(PMM2):c.584A>G (p.His195Arg) rs1596489887
NM_000303.3(PMM2):c.639+182G>T rs9924186
NM_000303.3(PMM2):c.639+44C>T rs147688858
NM_000303.3(PMM2):c.640-15556A>C rs113832517
NM_000303.3(PMM2):c.640-15802C>A rs75594386
NM_000303.3(PMM2):c.640-280dup rs3833068
NM_000303.3(PMM2):c.640-28C>G rs181837170
NM_000303.3(PMM2):c.640-330C>A rs200366327
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.710C>G (p.Thr237Arg) rs80338708
NM_000303.3(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.3(PMM2):c.8C>T (p.Ala3Val)
NM_000303.3(PMM2):c.93C>T (p.Phe31=) rs61730638

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