ClinVar Miner

List of variants studied for congenital generalized lipodystrophy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 180
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HGVS dbSNP gnomAD frequency
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_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_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_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.182+6G>A rs373540283 0.00178
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_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_012232.6(CAVIN1):c.*1214G>A rs550372098 0.00075
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_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.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_006412.4(AGPAT2):c.741C>T (p.Thr247=) rs117434864 0.00024
NM_012232.6(CAVIN1):c.*195C>G rs143895719 0.00021
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_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.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_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.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_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.1234+14T>G rs778380128 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.788C>T (p.Pro263Leu) rs17848858 0.00004
NM_012232.6(CAVIN1):c.*31C>G rs775795568 0.00004
NM_001122955.4(BSCL2):c.184C>T (p.Leu62Phe) rs756907468 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.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.1200C>T (p.Ser400=) rs766492897 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_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.1054A>G (p.Ile352Val) rs775718358 0.00001
NM_001122955.4(BSCL2):c.88-634G>C rs575422877 0.00001
NM_001122955.4(BSCL2):c.991C>T (p.Arg331Cys) rs773431994 0.00001
NM_006412.4(AGPAT2):c.-68C>G rs886063726 0.00001
NM_006412.4(AGPAT2):c.453A>G (p.Thr151=) rs886063721 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.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.679C>T (p.Arg227Trp) rs747339228 0.00001
NM_001122955.4(BSCL2):c.1167C>T (p.Ser389=) rs17850877
NM_001122955.4(BSCL2):c.424A>G (p.Thr142Ala) rs1565150951
NM_001122955.4(BSCL2):c.544C>A (p.Pro182Thr) rs886048442
NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser) rs10776
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=) rs998498207
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_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.199G>A (p.Val67Met) rs563539429
NM_006412.4(AGPAT2):c.234C>T (p.Phe78=) rs543374987
NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu) rs886063722
NM_006412.4(AGPAT2):c.361C>G (p.Arg121Gly) rs369878933
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.786C>T (p.Thr262=) rs151215253
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.197A>G (p.Asp66Gly) rs2085564424
NM_012232.6(CAVIN1):c.468C>T (p.Tyr156=) rs2085559084
NM_012232.6(CAVIN1):c.576C>G (p.Pro192=) rs559527150

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