ClinVar Miner

List of variants reported as uncertain significance for Berardinelli-Seip congenital lipodystrophy by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP
NM_001122955.3(BSCL2):c.131G>A (p.Gly44Asp) rs769536524
NM_001122955.3(BSCL2):c.184C>T (p.Leu62Phe) rs756907468
NM_006412.4(AGPAT2):c.*164C>A rs777619886
NM_006412.4(AGPAT2):c.*201G>C rs567964604
NM_006412.4(AGPAT2):c.*217G>A rs886063720
NM_006412.4(AGPAT2):c.*230C>T rs190437134
NM_006412.4(AGPAT2):c.*354C>T rs886063719
NM_006412.4(AGPAT2):c.*418G>A rs886063718
NM_006412.4(AGPAT2):c.*45C>A rs769602973
NM_006412.4(AGPAT2):c.*512G>A rs555467686
NM_006412.4(AGPAT2):c.*514A>C rs886063717
NM_006412.4(AGPAT2):c.-10_-6GGGCC[3] (p.Met1fs) rs886063723
NM_006412.4(AGPAT2):c.-4G>C rs886063724
NM_006412.4(AGPAT2):c.-51_-46GGAGCG[2] rs376582855
NM_006412.4(AGPAT2):c.-61G>C rs886063725
NM_006412.4(AGPAT2):c.-62G>A rs566958496
NM_006412.4(AGPAT2):c.-68C>G rs886063726
NM_006412.4(AGPAT2):c.182+6G>A rs373540283
NM_006412.4(AGPAT2):c.182+8C>T rs199860398
NM_006412.4(AGPAT2):c.234C>T (p.Phe78=) rs543374987
NM_006412.4(AGPAT2):c.315G>T (p.Met105Ile) rs746809573
NM_006412.4(AGPAT2):c.316+15G>A rs531012485
NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu) rs886063722
NM_006412.4(AGPAT2):c.453A>G (p.Thr151=) rs886063721
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.493-3C>T rs764555217
NM_006412.4(AGPAT2):c.604G>A (p.Val202Met) rs372408400
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter) rs138994150
NM_006412.4(AGPAT2):c.662-5C>G rs199964729
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.748C>T (p.Arg250Trp) rs767338891
NM_006412.4(AGPAT2):c.783G>A (p.Lys261=) rs761143874
NM_006412.4(AGPAT2):c.820G>A (p.Val274Met) rs368902934
NM_032667.6(BSCL2):c.*49T>G rs368144792
NM_032667.6(BSCL2):c.-140A>C rs886048443
NM_032667.6(BSCL2):c.1042+14T>G rs778380128
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.352C>A (p.Pro118Thr) rs886048442
NM_032667.6(BSCL2):c.396C>T (p.Cys132=) rs369806785
NM_032667.6(BSCL2):c.553G>T (p.Ala185Ser) rs10776
NM_032667.6(BSCL2):c.862A>G (p.Ile288Val) rs775718358

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