ClinVar Miner

List of variants reported as benign for generalized lipodystrophy

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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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_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.843G>A (p.Leu281=) rs35648297 0.01677
NM_006412.4(AGPAT2):c.*239G>A rs56310643 0.01334
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.475C>T (p.Arg159Cys) rs142993240 0.00430
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_001753.5(CAV1):c.30+20C>T rs34592877 0.00070
NM_006412.4(AGPAT2):c.741C>T (p.Thr247=) rs117434864 0.00024
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
NM_001122955.4(BSCL2):c.88-613G>A rs112877243
NM_006412.4(AGPAT2):c.*79C>G rs112657922
NM_012232.6(CAVIN1):c.*1591T>G rs4796582
NM_012232.6(CAVIN1):c.*1704C>G rs7210713

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