ClinVar Miner

List of variants reported as uncertain significance for congenital generalized lipodystrophy

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 174
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HGVS dbSNP gnomAD frequency
NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val) rs142417583 0.00634
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.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.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_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_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_006412.4(AGPAT2):c.230G>A (p.Arg77His) rs375796317 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_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.208T>G (p.Phe70Val) rs140995132 0.00019
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=) rs370926100 0.00016
NM_012232.6(CAVIN1):c.*1232G>A rs886052947 0.00016
NM_001122955.4(BSCL2):c.844G>A (p.Ala282Thr) rs190842600 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.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_006412.4(AGPAT2):c.54G>A (p.Val18=) rs140553479 0.00009
NM_012232.6(CAVIN1):c.*158A>T rs144298843 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_001122955.4(BSCL2):c.1147G>A (p.Gly383Arg) rs772516974 0.00006
NM_001753.5(CAV1):c.202T>G (p.Phe68Val) rs752571940 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_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.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.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_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.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_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.1298C>T (p.Ala433Val) rs141657385 0.00001
NM_001122955.4(BSCL2):c.257G>A (p.Gly86Asp) rs772832629 0.00001
NM_001122955.4(BSCL2):c.991C>T (p.Arg331Cys) rs773431994 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.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.1097C>G (p.Thr366Ser) rs1424325463
NM_001122955.4(BSCL2):c.1207GAG[1] (p.Glu404del) rs556562410
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.367A>T (p.Thr123Ser) rs1349958377
NM_001122955.4(BSCL2):c.404G>C (p.Arg135Thr) rs2083508651
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.630G>A (p.Ser210=) rs150158560
NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser) rs10776
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.88-620A>C rs886048443
NM_001122955.4(BSCL2):c.968G>T (p.Trp323Leu) rs367783346
NM_006412.4(AGPAT2):c.*277C>T rs1039011011
NM_006412.4(AGPAT2):c.*411C>T rs1564288835
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.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.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.492+4_492+7del rs1057518715
NM_006412.4(AGPAT2):c.640AAG[2] (p.Lys216del)
NM_006412.4(AGPAT2):c.646_647inv (p.Lys216Leu)
NM_006412.4(AGPAT2):c.698C>A (p.Thr233Asn) rs536777709
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.*1895C>G rs1240074915
NM_012232.6(CAVIN1):c.*1990A>C rs886052946
NM_012232.6(CAVIN1):c.*2115G>T rs113990379
NM_012232.6(CAVIN1):c.197A>G (p.Asp66Gly) rs2085564424
NM_012232.6(CAVIN1):c.256G>A (p.Val86Met)
NM_012232.6(CAVIN1):c.28G>C (p.Glu10Gln)
NM_012232.6(CAVIN1):c.468C>T (p.Tyr156=) rs2085559084
NM_012232.6(CAVIN1):c.576C>G (p.Pro192=) rs559527150
NM_012232.6(CAVIN1):c.62C>T (p.Ala21Val)
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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