ClinVar Miner

List of variants reported as pathogenic for congenital generalized lipodystrophy

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 60
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) rs138994150 0.00103
NM_006412.4(AGPAT2):c.589-2A>G rs116807569 0.00043
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs) rs387906355 0.00008
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.570C>A (p.Tyr190Ter) rs121908926 0.00002
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.757G>T (p.Glu253Ter) rs137852975 0.00001
NM_001122955.4(BSCL2):c.826G>C (p.Ala276Pro) rs137852971 0.00001
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter) rs587777606 0.00001
NM_001753.5(CAV1):c.112G>T (p.Glu38Ter) rs121434501 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.493-1G>C rs606231168 0.00001
NM_012232.6(CAVIN1):c.362dup (p.Lys122fs) rs1489315815 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.384_385delinsGGA (p.Ser128fs) rs786205068
NM_001122955.4(BSCL2):c.402C>G (p.Tyr134Ter) rs557044760
NM_001122955.4(BSCL2):c.404+1G>T rs1565152616
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.630+1G>A rs1945400235
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.828del (p.Tyr277fs) rs758843908
NM_001122955.4(BSCL2):c.844_854del (p.Ala282fs) rs1064797076
NM_001122955.4(BSCL2):c.863+5G>A rs786205072
NM_001122955.4(BSCL2):c.864-3C>G rs786205073
NM_001122955.4(BSCL2):c.942dup (p.Leu315fs) rs1554983076
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs) rs749890533
NM_001753.5(CAV1):c.237_238del (p.His79fs)
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.313A>G (p.Met105Val) rs2119186288
NM_006412.4(AGPAT2):c.316+1G>T
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.415TTC[1] (p.Phe140del) rs387906356
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.622_626del (p.Ser208fs) rs1564290079
NM_006412.4(AGPAT2):c.643A>T (p.Lys215Ter) rs121908925
NM_006412.4(AGPAT2):c.683T>C (p.Leu228Pro) rs104894100
NM_006412.4(AGPAT2):c.685G>T (p.Glu229Ter) rs1255380257
NM_012232.6(CAVIN1):c.135del (p.Lys45fs) rs1567782493
NM_012232.6(CAVIN1):c.160del (p.Val54fs) rs1567782465
NM_012232.6(CAVIN1):c.259C>T (p.Gln87Ter)
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.696dup (p.Lys233fs) rs1427062799

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.