ClinVar Miner

List of variants studied for Berardinelli-Seip congenital lipodystrophy

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 173
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HGVS dbSNP
BSCL2, 258-BP DEL/12-BP INS
NM_001122955.3(BSCL2):c.124C>T (p.Arg42Cys) rs201493373
NM_001122955.3(BSCL2):c.131G>A (p.Gly44Asp) rs769536524
NM_001122955.3(BSCL2):c.133G>A (p.Gly45Ser) rs3763853
NM_001122955.3(BSCL2):c.184C>T (p.Leu62Phe) rs756907468
NM_001753.5(CAV1):c.112G>T (p.Glu38Ter) rs121434501
NM_001753.5(CAV1):c.424C>T (p.Gln142Ter) rs797045176
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
NM_006412.4(AGPAT2):c.*157C>T rs4880119
NM_006412.4(AGPAT2):c.*164C>A rs777619886
NM_006412.4(AGPAT2):c.*201G>C rs567964604
NM_006412.4(AGPAT2):c.*211G>A
NM_006412.4(AGPAT2):c.*217G>A rs886063720
NM_006412.4(AGPAT2):c.*230C>T rs190437134
NM_006412.4(AGPAT2):c.*232C>T
NM_006412.4(AGPAT2):c.*236C>T
NM_006412.4(AGPAT2):c.*239G>A rs56310643
NM_006412.4(AGPAT2):c.*277C>T
NM_006412.4(AGPAT2):c.*34C>G
NM_006412.4(AGPAT2):c.*354C>T rs886063719
NM_006412.4(AGPAT2):c.*382C>T
NM_006412.4(AGPAT2):c.*411C>T
NM_006412.4(AGPAT2):c.*418G>A rs886063718
NM_006412.4(AGPAT2):c.*442C>G rs6951
NM_006412.4(AGPAT2):c.*45C>A rs769602973
NM_006412.4(AGPAT2):c.*488C>T
NM_006412.4(AGPAT2):c.*48T>C
NM_006412.4(AGPAT2):c.*510C>T
NM_006412.4(AGPAT2):c.*512G>A rs555467686
NM_006412.4(AGPAT2):c.*514A>C rs886063717
NM_006412.4(AGPAT2):c.*517C>T rs10320
NM_006412.4(AGPAT2):c.*535C>T rs138670030
NM_006412.4(AGPAT2):c.*572C>T
NM_006412.4(AGPAT2):c.*79C>G rs112657922
NM_006412.4(AGPAT2):c.-18C>A
NM_006412.4(AGPAT2):c.-19T>C
NM_006412.4(AGPAT2):c.-4G>C rs886063724
NM_006412.4(AGPAT2):c.-61G>C rs886063725
NM_006412.4(AGPAT2):c.-62G>A rs566958496
NM_006412.4(AGPAT2):c.-67G>C rs146341067
NM_006412.4(AGPAT2):c.-68C>G rs886063726
NM_006412.4(AGPAT2):c.182+1G>A rs1057517650
NM_006412.4(AGPAT2):c.182+6G>A rs373540283
NM_006412.4(AGPAT2):c.182+8C>T rs199860398
NM_006412.4(AGPAT2):c.183-2A>G rs1057517649
NM_006412.4(AGPAT2):c.189C>T (p.Ile63=) rs150180733
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.202C>T (p.Arg68Ter) rs104894093
NM_006412.4(AGPAT2):c.234C>T (p.Phe78=) rs543374987
NM_006412.4(AGPAT2):c.269G>A (p.Arg90His) rs142176861
NM_006412.4(AGPAT2):c.282C>T (p.Ile94=)
NM_006412.4(AGPAT2):c.299G>A (p.Ser100Asn) rs764260414
NM_006412.4(AGPAT2):c.315G>T (p.Met105Ile) rs746809573
NM_006412.4(AGPAT2):c.316+15G>A rs531012485
NM_006412.4(AGPAT2):c.317-7C>T rs74584184
NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu) rs886063722
NM_006412.4(AGPAT2):c.335del (p.Pro112fs) rs1588263957
NM_006412.4(AGPAT2):c.345C>T (p.Cys115=) rs73668354
NM_006412.4(AGPAT2):c.361C>G (p.Arg121Gly)
NM_006412.4(AGPAT2):c.366_588+534del
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs) rs387906355
NM_006412.4(AGPAT2):c.397A>G (p.Met133Val)
NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg) rs797045222
NM_006412.4(AGPAT2):c.415T>G (p.Phe139Val)
NM_006412.4(AGPAT2):c.415_417TTC[1] (p.Phe140del) rs387906356
NM_006412.4(AGPAT2):c.453A>G (p.Thr151=) rs886063721
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) rs142993240
NM_006412.4(AGPAT2):c.476G>T (p.Arg159Leu) rs374919945
NM_006412.4(AGPAT2):c.483C>T (p.Val161=) rs370441324
NM_006412.4(AGPAT2):c.492+1G>A rs933422777
NM_006412.4(AGPAT2):c.492+4_492+7del rs1057518715
NM_006412.4(AGPAT2):c.493-1G>C rs606231168
NM_006412.4(AGPAT2):c.493-7C>T
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.54G>A (p.Val18=)
NM_006412.4(AGPAT2):c.570C>A (p.Tyr190Ter) rs121908926
NM_006412.4(AGPAT2):c.589-2A>G rs116807569
NM_006412.4(AGPAT2):c.604G>A (p.Val202Met) rs372408400
NM_006412.4(AGPAT2):c.622_626del (p.Ser208fs) rs1564290079
NM_006412.4(AGPAT2):c.643A>T (p.Lys215Ter) rs121908925
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) rs138994150
NM_006412.4(AGPAT2):c.647A>T (p.Lys216Met)
NM_006412.4(AGPAT2):c.661+2T>G rs1057517654
NM_006412.4(AGPAT2):c.662-5C>G rs199964729
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.698C>A (p.Thr233Asn) rs536777709
NM_006412.4(AGPAT2):c.702C>T (p.Ser234=) rs116951119
NM_006412.4(AGPAT2):c.713C>G (p.Ala238Gly) rs200656731
NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val) rs145975461
NM_006412.4(AGPAT2):c.720C>T (p.Asp240=) rs142207711
NM_006412.4(AGPAT2):c.732C>T (p.Leu244=) rs200288462
NM_006412.4(AGPAT2):c.741C>T (p.Thr247=) rs117434864
NM_006412.4(AGPAT2):c.748C>T (p.Arg250Trp) rs767338891
NM_006412.4(AGPAT2):c.749G>A (p.Arg250Gln)
NM_006412.4(AGPAT2):c.755_763del (p.Met252_Thr254del) rs1057517656
NM_006412.4(AGPAT2):c.762C>T (p.Thr254=) rs146973799
NM_006412.4(AGPAT2):c.783G>A (p.Lys261=) rs761143874
NM_006412.4(AGPAT2):c.786C>T (p.Thr262=)
NM_006412.4(AGPAT2):c.788C>T (p.Pro263Leu)
NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val) rs142417583
NM_006412.4(AGPAT2):c.813G>T (p.Gly271=)
NM_006412.4(AGPAT2):c.820G>A (p.Val274Met) rs368902934
NM_032667.6(BSCL2):c.*49T>G rs368144792
NM_032667.6(BSCL2):c.*58G>A
NM_032667.6(BSCL2):c.-133G>A rs112877243
NM_032667.6(BSCL2):c.-140A>C rs886048443
NM_032667.6(BSCL2):c.-154G>C rs575422877
NM_032667.6(BSCL2):c.-182C>A rs117597269
NM_032667.6(BSCL2):c.-183G>A rs117862461
NM_032667.6(BSCL2):c.-194G>T rs549450153
NM_032667.6(BSCL2):c.1008C>T (p.Ser336=)
NM_032667.6(BSCL2):c.1009G>A (p.Gly337Arg) rs138964424
NM_032667.6(BSCL2):c.1010G>A (p.Gly337Glu) rs767463971
NM_032667.6(BSCL2):c.1042+14T>G rs778380128
NM_032667.6(BSCL2):c.1042+7G>A rs200631909
NM_032667.6(BSCL2):c.1043-2A>C rs1565142553
NM_032667.6(BSCL2):c.1088T>C (p.Leu363Pro) rs145649423
NM_032667.6(BSCL2):c.1106C>T (p.Ala369Val) rs141657385
NM_032667.6(BSCL2):c.142C>T (p.Leu48Phe) rs1057517657
NM_032667.6(BSCL2):c.154_155dup (p.Tyr53fs) rs1057517658
NM_032667.6(BSCL2):c.192_193delinsGGA (p.Ser64fs) rs786205068
NM_032667.6(BSCL2):c.193delinsGGA (p.Pro65fs) rs1057517659
NM_032667.6(BSCL2):c.210C>G (p.Tyr70Ter) rs557044760
NM_032667.6(BSCL2):c.212+1G>T rs1565152616
NM_032667.6(BSCL2):c.232A>G (p.Thr78Ala) rs1565150951
NM_032667.6(BSCL2):c.256G>A (p.Val86Ile) rs149412531
NM_032667.6(BSCL2):c.294+11G>T rs72929434
NM_032667.6(BSCL2):c.301_302insAA (p.Met101fs) rs786205069
NM_032667.6(BSCL2):c.315_316del (p.Tyr106fs) rs786205070
NM_032667.6(BSCL2):c.317_321del (p.Tyr106fs) rs587777608
NM_032667.6(BSCL2):c.325dup (p.Thr109fs) rs786205071
NM_032667.6(BSCL2):c.352C>A (p.Pro118Thr) rs886048442
NM_032667.6(BSCL2):c.396C>T (p.Cys132=) rs369806785
NM_032667.6(BSCL2):c.412C>T (p.Arg138Ter) rs137852970
NM_032667.6(BSCL2):c.423C>T (p.Ser141=) rs140208002
NM_032667.6(BSCL2):c.545_546insCCG (p.Glu182delinsAspArg) rs747297291
NM_032667.6(BSCL2):c.553G>A (p.Ala185Thr) rs10776
NM_032667.6(BSCL2):c.553G>T (p.Ala185Ser) rs10776
NM_032667.6(BSCL2):c.563_564GA[2] (p.Asn190fs) rs1565144681
NM_032667.6(BSCL2):c.565G>T (p.Glu189Ter) rs137852975
NM_032667.6(BSCL2):c.573+15C>T rs79586077
NM_032667.6(BSCL2):c.574-2A>G rs1013079991
NM_032667.6(BSCL2):c.584C>T (p.Thr195Ile) rs1565144468
NM_032667.6(BSCL2):c.618C>T (p.Arg206=) rs998498207
NM_032667.6(BSCL2):c.631G>A (p.Gly211Arg) rs151018278
NM_032667.6(BSCL2):c.634G>C (p.Ala212Pro) rs137852971
NM_032667.6(BSCL2):c.636del (p.Tyr213fs) rs758843908
NM_032667.6(BSCL2):c.652_662del (p.Ala218fs) rs1064797076
NM_032667.6(BSCL2):c.653C>T (p.Ala218Val) rs185341934
NM_032667.6(BSCL2):c.669C>T (p.Leu223=) rs370926100
NM_032667.6(BSCL2):c.671+5G>A rs786205072
NM_032667.6(BSCL2):c.672-2A>C rs766061024
NM_032667.6(BSCL2):c.672-2A>G rs766061024
NM_032667.6(BSCL2):c.672-3C>G rs786205073
NM_032667.6(BSCL2):c.747C>T (p.Ile249=) rs200300686
NM_032667.6(BSCL2):c.750dup (p.Leu251fs) rs1554983076
NM_032667.6(BSCL2):c.782dup (p.Ile262fs) rs749890533
NM_032667.6(BSCL2):c.793C>T (p.Arg265Ter) rs587777606
NM_032667.6(BSCL2):c.794G>A (p.Arg265Gln)
NM_032667.6(BSCL2):c.799C>T (p.Arg267Cys)
NM_032667.6(BSCL2):c.814-2A>G rs879254029
NM_032667.6(BSCL2):c.823C>T (p.Arg275Ter) rs137852974
NM_032667.6(BSCL2):c.862A>G (p.Ile288Val) rs775718358
NM_032667.6(BSCL2):c.945A>G (p.Glu315=) rs6856
NM_032667.6(BSCL2):c.975C>T (p.Ser325=) rs17850877
NM_032667.6:c.438+1G>A

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