ClinVar Miner

List of variants studied for congenital generalized lipodystrophy

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 349
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HGVS dbSNP gnomAD frequency
NM_001753.5(CAV1):c.30+214A>C rs1997623 0.86226
NM_012232.6(CAVIN1):c.*1749T>C rs7212299 0.84147
NM_012232.6(CAVIN1):c.*190A>G rs7207285 0.83659
NM_012232.6(CAVIN1):c.*815A>G rs6416922 0.83632
NM_012232.6(CAVIN1):c.*458C>T rs6416923 0.83625
NM_006412.4(AGPAT2):c.*157C>T rs4880119 0.76858
NM_006412.4(AGPAT2):c.*442C>G rs6951 0.75286
NM_001122955.4(BSCL2):c.766-49T>C rs2850597 0.75076
NM_001122955.4(BSCL2):c.765+69A>G rs2850596 0.74808
NM_006412.4(AGPAT2):c.661+121T>C rs9411215 0.67675
NM_006412.4(AGPAT2):c.183-60G>C rs2236514 0.58981
NM_012232.6(CAVIN1):c.*766T>A rs709631 0.57783
NM_006412.4(AGPAT2):c.*517C>T rs10320 0.22742
NM_001122955.4(BSCL2):c.486+11G>T rs72929434 0.16805
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_012232.6(CAVIN1):c.*906G>A rs1129422 0.13601
NM_006412.4(AGPAT2):c.-67G>C rs146341067 0.06932
NM_012232.6(CAVIN1):c.*1856C>T rs9252 0.06451
NM_012232.6(CAVIN1):c.*1446G>C rs4796583 0.04533
NM_001122955.4(BSCL2):c.765+15C>T rs79586077 0.03596
NM_012232.6(CAVIN1):c.*462C>T rs111860392 0.02222
NM_006412.4(AGPAT2):c.*535C>T rs138670030 0.01906
NM_012232.6(CAVIN1):c.927G>A (p.Ala309=) rs112332573 0.01816
NM_006412.4(AGPAT2):c.317-7C>T rs74584184 0.01776
NM_012232.6(CAVIN1):c.*347C>A rs7220527 0.01753
NM_012232.6(CAVIN1):c.843G>A (p.Leu281=) rs35648297 0.01677
NM_006412.4(AGPAT2):c.345C>T (p.Cys115=) rs73668354 0.01383
NM_006412.4(AGPAT2):c.*239G>A rs56310643 0.01334
NM_001122955.4(BSCL2):c.88-662C>A rs117597269 0.01291
NM_012232.6(CAVIN1):c.*703T>A rs79683345 0.01277
NM_006412.4(AGPAT2):c.702C>T (p.Ser234=) rs116951119 0.01094
NM_012232.6(CAVIN1):c.*363C>T rs75155493 0.00940
NM_012232.6(CAVIN1):c.*998G>A rs35725766 0.00751
NM_001122955.4(BSCL2):c.1234+20G>A rs113229350 0.00638
NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val) rs142417583 0.00634
NM_006412.4(AGPAT2):c.*236C>T rs117979028 0.00572
NM_012232.6(CAVIN1):c.*1508G>A rs117596331 0.00541
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) rs142993240 0.00430
NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val) rs145975461 0.00332
NM_006412.4(AGPAT2):c.493-17C>A rs376439157 0.00303
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_012232.6(CAVIN1):c.*2048T>C rs115889684 0.00295
NM_006412.4(AGPAT2):c.*510C>T rs149296700 0.00293
NM_012232.6(CAVIN1):c.*839G>A rs181876690 0.00229
NM_006412.4(AGPAT2):c.182+8C>T rs199860398 0.00220
NM_006412.4(AGPAT2):c.*48T>C rs200614462 0.00201
NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp) rs146547678 0.00201
NM_006412.4(AGPAT2):c.340C>T (p.Arg114Cys) rs142145391 0.00186
NM_006412.4(AGPAT2):c.182+6G>A rs373540283 0.00178
NM_006412.4(AGPAT2):c.359A>G (p.Lys120Arg) rs114782902 0.00155
NM_006412.4(AGPAT2):c.*512G>A rs555467686 0.00140
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=) rs143511306 0.00124
NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys) rs146799286 0.00122
NM_012232.6(CAVIN1):c.*1110C>T rs776275443 0.00121
NM_012232.6(CAVIN1):c.*104C>T rs532604033 0.00108
NM_012232.6(CAVIN1):c.65C>T (p.Pro22Leu) rs61729285 0.00106
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) rs138994150 0.00103
NM_006412.4(AGPAT2):c.647A>T (p.Lys216Met) rs143244920 0.00103
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_001122955.4(BSCL2):c.88-674G>T rs549450153 0.00088
NM_006412.4(AGPAT2):c.640A>G (p.Lys214Glu) rs142248792 0.00085
NM_012232.6(CAVIN1):c.*1214G>A rs550372098 0.00075
NM_001753.5(CAV1):c.30+20C>T rs34592877 0.00070
NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys) rs201493373 0.00061
NM_006412.4(AGPAT2):c.269G>A (p.Arg90His) rs142176861 0.00061
NM_012232.6(CAVIN1):c.*522G>A rs534002973 0.00059
NM_006412.4(AGPAT2):c.*232C>T rs573498539 0.00055
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00048
NM_001753.5(CAV1):c.246C>T (p.Asp82=) rs35242077 0.00045
NM_001122955.4(BSCL2):c.1031C>T (p.Ser344Phe) rs140676897 0.00043
NM_006412.4(AGPAT2):c.589-2A>G rs116807569 0.00043
NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg) rs139531639 0.00038
NM_012232.6(CAVIN1):c.*810C>T rs558718636 0.00037
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg) rs151018278 0.00036
NM_012232.6(CAVIN1):c.462G>C (p.Met154Ile) rs148239625 0.00034
NM_006412.4(AGPAT2):c.762C>T (p.Thr254=) rs146973799 0.00033
NM_006412.4(AGPAT2):c.229C>T (p.Arg77Cys) rs151053652 0.00031
NM_006412.4(AGPAT2):c.732C>T (p.Leu244=) rs200288462 0.00031
NM_006412.4(AGPAT2):c.*488C>T rs541153485 0.00030
NM_006412.4(AGPAT2):c.*418G>A rs886063718 0.00026
NM_006412.4(AGPAT2):c.-62G>A rs566958496 0.00026
NM_001122955.4(BSCL2):c.624G>A (p.Ser208=) rs138532996 0.00024
NM_006412.4(AGPAT2):c.230G>A (p.Arg77His) rs375796317 0.00024
NM_006412.4(AGPAT2):c.741C>T (p.Thr247=) rs117434864 0.00024
NM_001122955.4(BSCL2):c.299G>T (p.Cys100Phe) rs147314661 0.00023
NM_012232.6(CAVIN1):c.*195C>G rs143895719 0.00021
NM_006412.4(AGPAT2):c.408G>A (p.Gly136=) rs145467496 0.00020
NM_001122955.4(BSCL2):c.131G>A (p.Gly44Asp) rs769536524 0.00019
NM_001122955.4(BSCL2):c.615C>T (p.Ser205=) rs140208002 0.00019
NM_006412.4(AGPAT2):c.*211G>A rs182766891 0.00019
NM_006412.4(AGPAT2):c.189C>T (p.Ile63=) rs150180733 0.00019
NM_006412.4(AGPAT2):c.208T>G (p.Phe70Val) rs140995132 0.00019
NM_001122955.4(BSCL2):c.1367G>A (p.Arg456His) rs149466797 0.00016
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=) rs370926100 0.00016
NM_012232.6(CAVIN1):c.*10G>A rs200409122 0.00016
NM_012232.6(CAVIN1):c.*1232G>A rs886052947 0.00016
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr) rs190842600 0.00014
NM_001753.5(CAV1):c.129C>T (p.Asp43=) rs201261029 0.00014
NM_001753.5(CAV1):c.357C>T (p.Phe119=) rs201302545 0.00014
NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile) rs149412531 0.00013
NM_006412.4(AGPAT2):c.*164C>A rs777619886 0.00013
NM_006412.4(AGPAT2):c.415T>G (p.Phe139Val) rs372935354 0.00013
NM_006412.4(AGPAT2):c.*382C>T rs955418956 0.00012
NM_001122955.4(BSCL2):c.1234+7G>A rs200631909 0.00011
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=) rs369806785 0.00011
NM_001122955.4(BSCL2):c.*49T>G rs368144792 0.00010
NM_001122955.4(BSCL2):c.*58G>A rs755714656 0.00010
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr) rs10776 0.00010
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=) rs200300686 0.00010
NM_006412.4(AGPAT2):c.54G>A (p.Val18=) rs140553479 0.00009
NM_012232.6(CAVIN1):c.*158A>T rs144298843 0.00009
NM_012232.6(CAVIN1):c.*2211G>A rs74685015 0.00009
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu) rs767463971 0.00008
NM_001122955.4(BSCL2):c.88-19C>T rs760935362 0.00008
NM_006412.4(AGPAT2):c.315G>T (p.Met105Ile) rs746809573 0.00008
NM_006412.4(AGPAT2):c.316+15G>A rs531012485 0.00008
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs) rs387906355 0.00008
NM_006412.4(AGPAT2):c.483C>T (p.Val161=) rs370441324 0.00008
NM_006412.4(AGPAT2):c.720C>T (p.Asp240=) rs142207711 0.00008
NM_006412.4(AGPAT2):c.749G>A (p.Arg250Gln) rs368090654 0.00008
NM_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg) rs772516974 0.00006
NM_001753.5(CAV1):c.202T>G (p.Phe68Val) rs752571940 0.00006
NM_001753.5(CAV1):c.45C>G (p.Thr15=) rs926719665 0.00006
NM_006412.4(AGPAT2):c.*514A>C rs886063717 0.00006
NM_006412.4(AGPAT2):c.476G>T (p.Arg159Leu) rs374919945 0.00006
NM_006412.4(AGPAT2):c.662-5C>G rs199964729 0.00006
NM_012232.6(CAVIN1):c.*999C>T rs759379641 0.00006
NM_012232.6(CAVIN1):c.-50C>T rs548579969 0.00006
NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg) rs138964424 0.00005
NM_006412.4(AGPAT2):c.*354C>T rs886063719 0.00005
NM_001122955.4(BSCL2):c.1145C>T (p.Ser382Leu) rs149907021 0.00004
NM_001122955.4(BSCL2):c.1234+14T>G rs778380128 0.00004
NM_001122955.4(BSCL2):c.1282C>T (p.Pro428Ser) rs369732238 0.00004
NM_001122955.4(BSCL2):c.359A>G (p.Tyr120Cys) rs370905417 0.00004
NM_001122955.4(BSCL2):c.934G>A (p.Val312Ile) rs754683462 0.00004
NM_001753.5(CAV1):c.512G>A (p.Arg171His) rs772468332 0.00004
NM_006412.4(AGPAT2):c.*201G>C rs567964604 0.00004
NM_006412.4(AGPAT2):c.*572C>T rs1037877364 0.00004
NM_006412.4(AGPAT2):c.24C>G (p.Ala8=) rs987053838 0.00004
NM_006412.4(AGPAT2):c.273C>G (p.Pro91=) rs548976674 0.00004
NM_006412.4(AGPAT2):c.788C>T (p.Pro263Leu) rs17848858 0.00004
NM_012232.6(CAVIN1):c.*31C>G rs775795568 0.00004
NM_001122955.4(BSCL2):c.1168G>A (p.Glu390Lys) rs141518903 0.00003
NM_001122955.4(BSCL2):c.1235-6G>A rs762484263 0.00003
NM_001122955.4(BSCL2):c.184C>T (p.Leu62Phe) rs756907468 0.00003
NM_001122955.4(BSCL2):c.443T>C (p.Phe148Ser) rs751277966 0.00003
NM_001122955.4(BSCL2):c.773C>T (p.Pro258Leu) rs769219167 0.00003
NM_001122955.4(BSCL2):c.864-2A>C rs766061024 0.00003
NM_006412.4(AGPAT2):c.*34C>G rs749592042 0.00003
NM_006412.4(AGPAT2):c.*45C>A rs769602973 0.00003
NM_006412.4(AGPAT2):c.282C>T (p.Ile94=) rs762040181 0.00003
NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg) rs797045222 0.00003
NM_006412.4(AGPAT2):c.492+1G>A rs933422777 0.00003
NM_006412.4(AGPAT2):c.748C>T (p.Arg250Trp) rs767338891 0.00003
NM_012232.6(CAVIN1):c.*1479G>A rs372899540 0.00003
NM_012232.6(CAVIN1):c.836C>G (p.Thr279Arg) rs772598451 0.00003
NM_012232.6(CAVIN1):c.859C>G (p.Arg287Gly) rs146596349 0.00003
NM_001122955.4(BSCL2):c.1034G>A (p.Arg345Gln) rs202072835 0.00002
NM_001122955.4(BSCL2):c.1200C>T (p.Ser400=) rs766492897 0.00002
NM_001122955.4(BSCL2):c.199A>C (p.Asn67His) rs1057524897 0.00002
NM_001122955.4(BSCL2):c.62A>T (p.Gln21Leu) rs1006065298 0.00002
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln) rs771322168 0.00002
NM_006412.4(AGPAT2):c.*217G>A rs886063720 0.00002
NM_006412.4(AGPAT2):c.570C>A (p.Tyr190Ter) rs121908926 0.00002
NM_012232.6(CAVIN1):c.*1549C>T rs781740643 0.00002
NM_012232.6(CAVIN1):c.232C>A (p.Arg78=) rs750373957 0.00002
NM_012232.6(CAVIN1):c.514C>G (p.Leu172Val) rs200954375 0.00002
NM_001122955.4(BSCL2):c.1022G>A (p.Arg341Lys) rs144725547 0.00001
NM_001122955.4(BSCL2):c.1054A>G (p.Ile352Val) rs775718358 0.00001
NM_001122955.4(BSCL2):c.1069C>T (p.Pro357Ser) rs781022347 0.00001
NM_001122955.4(BSCL2):c.1071A>G (p.Pro357=) rs113336810 0.00001
NM_001122955.4(BSCL2):c.1160A>G (p.Gln387Arg) rs779682500 0.00001
NM_001122955.4(BSCL2):c.1264C>G (p.Leu422Val) rs772442281 0.00001
NM_001122955.4(BSCL2):c.1269G>A (p.Thr423=) rs748736063 0.00001
NM_001122955.4(BSCL2):c.1298C>T (p.Ala433Val) rs141657385 0.00001
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp) rs772832629 0.00001
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs) rs786205071 0.00001
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter) rs137852970 0.00001
NM_001122955.4(BSCL2):c.737_738insCCG (p.Glu246delinsAspArg) rs747297291 0.00001
NM_001122955.4(BSCL2):c.757G>T (p.Glu253Ter) rs137852975 0.00001
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro) rs137852971 0.00001
NM_001122955.4(BSCL2):c.88-634G>C rs575422877 0.00001
NM_001122955.4(BSCL2):c.933C>T (p.Ser311=) rs748195771 0.00001
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter) rs587777606 0.00001
NM_001122955.4(BSCL2):c.991C>T (p.Arg331Cys) rs773431994 0.00001
NM_001753.5(CAV1):c.112G>T (p.Glu38Ter) rs121434501 0.00001
NM_001753.5(CAV1):c.302G>A (p.Arg101His) rs200052661 0.00001
NM_001753.5(CAV1):c.394C>G (p.Pro132Ala) rs748608068 0.00001
NM_006412.4(AGPAT2):c.-68C>G rs886063726 0.00001
NM_006412.4(AGPAT2):c.190G>A (p.Gly64Ser) rs552941425 0.00001
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter) rs104894093 0.00001
NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn) rs764260414 0.00001
NM_006412.4(AGPAT2):c.453A>G (p.Thr151=) rs886063721 0.00001
NM_006412.4(AGPAT2):c.493-1G>C rs606231168 0.00001
NM_006412.4(AGPAT2):c.493-3C>T rs764555217 0.00001
NM_006412.4(AGPAT2):c.493-7C>T rs1187808090 0.00001
NM_006412.4(AGPAT2):c.604G>A (p.Val202Met) rs372408400 0.00001
NM_006412.4(AGPAT2):c.662-2A>C rs1131691791 0.00001
NM_006412.4(AGPAT2):c.783G>A (p.Lys261=) rs761143874 0.00001
NM_006412.4(AGPAT2):c.820G>A (p.Val274Met) rs368902934 0.00001
NM_012232.6(CAVIN1):c.*1955T>C rs1266465226 0.00001
NM_012232.6(CAVIN1):c.*697A>C rs867384678 0.00001
NM_012232.6(CAVIN1):c.-143C>G rs886052949 0.00001
NM_012232.6(CAVIN1):c.1053C>T (p.Gly351=) rs374317281 0.00001
NM_012232.6(CAVIN1):c.12C>T (p.Pro4=) rs780083218 0.00001
NM_012232.6(CAVIN1):c.362dup (p.Lys122fs) rs1489315815 0.00001
NM_012232.6(CAVIN1):c.679C>T (p.Arg227Trp) rs747339228 0.00001
BSCL2, 258-BP DEL/12-BP INS
NM_001122955.4(BSCL2):c.1006-2A>G rs879254029
NM_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter) rs137852974
NM_001122955.4(BSCL2):c.1097C>G (p.Thr366Ser) rs1424325463
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=) rs17850877
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del) rs556562410
NM_001122955.4(BSCL2):c.1235-2A>C rs1565142553
NM_001122955.4(BSCL2):c.1244C>T (p.Ser415Phe) rs1590868109
NM_001122955.4(BSCL2):c.1299TTCTGC[1] (p.434SA[1]) rs747175358
NM_001122955.4(BSCL2):c.1299TTCTGC[3] (p.434SA[3]) rs747175358
NM_001122955.4(BSCL2):c.1300T>G (p.Ser434Ala) rs199584887
NM_001122955.4(BSCL2):c.1310C>T (p.Ala437Val) rs751558047
NM_001122955.4(BSCL2):c.1385C>A (p.Ser462Tyr) rs1945271930
NM_001122955.4(BSCL2):c.334C>T (p.Leu112Phe) rs1057517657
NM_001122955.4(BSCL2):c.346_347dup (p.Tyr117fs) rs1057517658
NM_001122955.4(BSCL2):c.367A>T (p.Thr123Ser) rs1349958377
NM_001122955.4(BSCL2):c.384_385delinsGGA (p.Ser128fs) rs786205068
NM_001122955.4(BSCL2):c.385delinsGGA (p.Pro129fs) rs1057517659
NM_001122955.4(BSCL2):c.402C>G (p.Tyr134Ter) rs557044760
NM_001122955.4(BSCL2):c.404+1G>T rs1565152616
NM_001122955.4(BSCL2):c.404G>C (p.Arg135Thr) rs2083508651
NM_001122955.4(BSCL2):c.405-21TCC[2] rs768556778
NM_001122955.4(BSCL2):c.424A>G (p.Thr142Ala) rs1565150951
NM_001122955.4(BSCL2):c.486+1G>T rs1011200048
NM_001122955.4(BSCL2):c.487-20A>T rs115756273
NM_001122955.4(BSCL2):c.493_494insAA (p.Met165fs) rs786205069
NM_001122955.4(BSCL2):c.507_508del (p.Tyr170fs) rs786205070
NM_001122955.4(BSCL2):c.509_513del (p.Tyr170fs) rs587777608
NM_001122955.4(BSCL2):c.544C>A (p.Pro182Thr) rs886048442
NM_001122955.4(BSCL2):c.630+1G>A rs1945400235
NM_001122955.4(BSCL2):c.630G>A (p.Ser210=) rs150158560
NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser) rs10776
NM_001122955.4(BSCL2):c.759_760del (p.Asn254fs) rs1565144681
NM_001122955.4(BSCL2):c.766-2A>G rs1013079991
NM_001122955.4(BSCL2):c.776C>T (p.Thr259Ile) rs1565144468
NM_001122955.4(BSCL2):c.806A>G (p.Lys269Arg) rs781217574
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=) rs998498207
NM_001122955.4(BSCL2):c.828del (p.Tyr277fs) rs758843908
NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs) rs1064797076
NM_001122955.4(BSCL2):c.862dup (p.Arg288fs) rs2134695130
NM_001122955.4(BSCL2):c.863+5G>A rs786205072
NM_001122955.4(BSCL2):c.864-2A>G rs766061024
NM_001122955.4(BSCL2):c.864-3C>G rs786205073
NM_001122955.4(BSCL2):c.88-613G>A rs112877243
NM_001122955.4(BSCL2):c.88-620A>C rs886048443
NM_001122955.4(BSCL2):c.88-663G>A rs117862461
NM_001122955.4(BSCL2):c.942dup (p.Leu315fs) rs1554983076
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu) rs367783346
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533
NM_001312673.2(PCYT1A):c.424G>A (p.Val142Met)
NM_001312673.2(PCYT1A):c.835GAG[1] (p.Glu280del) rs771425372
NM_001312673.2(PCYT1A):c.996del (p.Ser333fs) rs757164118
NM_001753.5(CAV1):c.237_238del (p.His79fs)
NM_001753.5(CAV1):c.424C>T (p.Gln142Ter) rs797045176
NM_001753.5(CAV1):c.437G>C (p.Arg146Pro) rs762818040
NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer) rs797044871
NM_006412.3(AGPAT2):c.(316+1_317-1)_(588+1_589-1)del (p.Leu107AlafsTer279)
NM_006412.4(AGPAT2):c.*102C>T rs144522710
NM_006412.4(AGPAT2):c.*212_*217dup rs145169122
NM_006412.4(AGPAT2):c.*230C>T rs190437134
NM_006412.4(AGPAT2):c.*277C>T rs1039011011
NM_006412.4(AGPAT2):c.*411C>T rs1564288835
NM_006412.4(AGPAT2):c.*79C>G rs112657922
NM_006412.4(AGPAT2):c.-10GGGCC[3] (p.Met1fs) rs886063723
NM_006412.4(AGPAT2):c.-18C>A rs369999417
NM_006412.4(AGPAT2):c.-19T>C rs754090246
NM_006412.4(AGPAT2):c.-4G>C rs886063724
NM_006412.4(AGPAT2):c.-51GGAGCG[2] rs376582855
NM_006412.4(AGPAT2):c.-61G>C rs886063725
NM_006412.4(AGPAT2):c.151C>T (p.Arg51Cys)
NM_006412.4(AGPAT2):c.182+1G>A rs1057517650
NM_006412.4(AGPAT2):c.183-2A>G rs1057517649
NM_006412.4(AGPAT2):c.194G>A (p.Trp65Ter) rs1057517651
NM_006412.4(AGPAT2):c.199G>A (p.Val67Met) rs563539429
NM_006412.4(AGPAT2):c.223G>C (p.Gly75Arg) rs556809277
NM_006412.4(AGPAT2):c.22G>A (p.Ala8Thr)
NM_006412.4(AGPAT2):c.234C>T (p.Phe78=) rs543374987
NM_006412.4(AGPAT2):c.269G>C (p.Arg90Pro) rs142176861
NM_006412.4(AGPAT2):c.313A>G (p.Met105Val) rs2119186288
NM_006412.4(AGPAT2):c.316+1G>T
NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu) rs886063722
NM_006412.4(AGPAT2):c.335del (p.Pro112fs) rs1588263957
NM_006412.4(AGPAT2):c.361C>G (p.Arg121Gly) rs369878933
NM_006412.4(AGPAT2):c.366_588+534del
NM_006412.4(AGPAT2):c.369_372del (p.Leu124fs) rs1693228350
NM_006412.4(AGPAT2):c.38T>A (p.Leu13Ter) rs2131023956
NM_006412.4(AGPAT2):c.397A>G (p.Met133Val) rs537737741
NM_006412.4(AGPAT2):c.40CTG[5] (p.Leu17dup) rs745429291
NM_006412.4(AGPAT2):c.415TTC[1] (p.Phe140del) rs387906356
NM_006412.4(AGPAT2):c.492+4_492+7del rs1057518715
NM_006412.4(AGPAT2):c.493-2A>G
NM_006412.4(AGPAT2):c.503G>A (p.Trp168Ter) rs1057518714
NM_006412.4(AGPAT2):c.513del (p.Glu172fs) rs1564290914
NM_006412.4(AGPAT2):c.514G>A (p.Glu172Lys) rs748157664
NM_006412.4(AGPAT2):c.538del (p.Asp180fs) rs1057517653
NM_006412.4(AGPAT2):c.622_626del (p.Ser208fs) rs1564290079
NM_006412.4(AGPAT2):c.640AAG[2] (p.Lys216del)
NM_006412.4(AGPAT2):c.643A>T (p.Lys215Ter) rs121908925
NM_006412.4(AGPAT2):c.646_647inv (p.Lys216Leu)
NM_006412.4(AGPAT2):c.661+2T>G rs1057517654
NM_006412.4(AGPAT2):c.676C>T (p.Gln226Ter) rs1057517655
NM_006412.4(AGPAT2):c.683T>C (p.Leu228Pro) rs104894100
NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter) rs1255380257
NM_006412.4(AGPAT2):c.698C>A (p.Thr233Asn) rs536777709
NM_006412.4(AGPAT2):c.713C>G (p.Ala238Gly) rs200656731
NM_006412.4(AGPAT2):c.755_763del (p.Met252_Thr254del) rs1057517656
NM_006412.4(AGPAT2):c.786C>T (p.Thr262=) rs151215253
NM_006412.4(AGPAT2):c.788C>G (p.Pro263Arg)
NM_006412.4(AGPAT2):c.813G>T (p.Gly271=) rs759149037
NM_012232.6(CAVIN1):c.*1185T>C rs886052948
NM_012232.6(CAVIN1):c.*1201T>G rs2085424170
NM_012232.6(CAVIN1):c.*1313G>T rs2085423533
NM_012232.6(CAVIN1):c.*143C>G rs148241491
NM_012232.6(CAVIN1):c.*1591T>G rs4796582
NM_012232.6(CAVIN1):c.*1704C>G rs7210713
NM_012232.6(CAVIN1):c.*1788C>G rs11546699
NM_012232.6(CAVIN1):c.*1895C>G rs1240074915
NM_012232.6(CAVIN1):c.*1912C>T rs12892
NM_012232.6(CAVIN1):c.*1990A>C rs886052946
NM_012232.6(CAVIN1):c.*2115G>T rs113990379
NM_012232.6(CAVIN1):c.-133C>G rs538472626
NM_012232.6(CAVIN1):c.135del (p.Lys45fs) rs1567782493
NM_012232.6(CAVIN1):c.141_148del (p.Asp47fs)
NM_012232.6(CAVIN1):c.160del (p.Val54fs) rs1567782465
NM_012232.6(CAVIN1):c.197A>G (p.Asp66Gly) rs2085564424
NM_012232.6(CAVIN1):c.256G>A (p.Val86Met)
NM_012232.6(CAVIN1):c.259C>T (p.Gln87Ter)
NM_012232.6(CAVIN1):c.28G>C (p.Glu10Gln)
NM_012232.6(CAVIN1):c.468C>T (p.Tyr156=) rs2085559084
NM_012232.6(CAVIN1):c.471+1G>T rs866504928
NM_012232.6(CAVIN1):c.478_481dup (p.Lys161fs) rs1567776514
NM_012232.6(CAVIN1):c.518_521del (p.Lys173fs) rs1207466199
NM_012232.6(CAVIN1):c.526del (p.Glu176fs) rs1567776490
NM_012232.6(CAVIN1):c.550G>T (p.Glu184Ter) rs199720089
NM_012232.6(CAVIN1):c.576C>G (p.Pro192=) rs559527150
NM_012232.6(CAVIN1):c.62C>T (p.Ala21Val)
NM_012232.6(CAVIN1):c.696dup (p.Lys233fs) rs1427062799
NM_012232.6(CAVIN1):c.743C>G (p.Thr248Ser)
NM_012232.6(CAVIN1):c.847C>T (p.Pro283Ser)
NM_012232.6(CAVIN1):c.905C>T (p.Thr302Met)
NM_012232.6(CAVIN1):c.917T>C (p.Val306Ala)

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