ClinVar Miner

List of variants studied for Congenital generalized lipodystrophy type 1 by Illumina Laboratory Services, Illumina

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Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_006412.4(AGPAT2):c.*157C>T rs4880119 0.76858
NM_006412.4(AGPAT2):c.*442C>G rs6951 0.75286
NM_006412.4(AGPAT2):c.*517C>T rs10320 0.22742
NM_006412.4(AGPAT2):c.-67G>C rs146341067 0.06932
NM_006412.4(AGPAT2):c.*535C>T rs138670030 0.01906
NM_006412.4(AGPAT2):c.317-7C>T rs74584184 0.01776
NM_006412.4(AGPAT2):c.345C>T (p.Cys115=) rs73668354 0.01383
NM_006412.4(AGPAT2):c.*239G>A rs56310643 0.01334
NM_006412.4(AGPAT2):c.702C>T (p.Ser234=) rs116951119 0.01094
NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val) rs142417583 0.00634
NM_006412.4(AGPAT2):c.*236C>T rs117979028 0.00572
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) rs142993240 0.00430
NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val) rs145975461 0.00332
NM_006412.4(AGPAT2):c.*510C>T rs149296700 0.00293
NM_006412.4(AGPAT2):c.182+8C>T rs199860398 0.00220
NM_006412.4(AGPAT2):c.*48T>C rs200614462 0.00201
NM_006412.4(AGPAT2):c.182+6G>A rs373540283 0.00178
NM_006412.4(AGPAT2):c.*512G>A rs555467686 0.00140
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_006412.4(AGPAT2):c.269G>A (p.Arg90His) rs142176861 0.00061
NM_006412.4(AGPAT2):c.*232C>T rs573498539 0.00055
NM_006412.4(AGPAT2):c.589-2A>G rs116807569 0.00043
NM_006412.4(AGPAT2):c.762C>T (p.Thr254=) rs146973799 0.00033
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.741C>T (p.Thr247=) rs117434864 0.00024
NM_006412.4(AGPAT2):c.*211G>A rs182766891 0.00019
NM_006412.4(AGPAT2):c.189C>T (p.Ile63=) rs150180733 0.00019
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_006412.4(AGPAT2):c.54G>A (p.Val18=) rs140553479 0.00009
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_006412.4(AGPAT2):c.*514A>C rs886063717 0.00006
NM_006412.4(AGPAT2):c.476G>T (p.Arg159Leu) rs374919945 0.00006
NM_006412.4(AGPAT2):c.662-5C>G rs199964729 0.00006
NM_006412.4(AGPAT2):c.*354C>T rs886063719 0.00005
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_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_006412.4(AGPAT2):c.*217G>A rs886063720 0.00002
NM_006412.4(AGPAT2):c.-68C>G rs886063726 0.00001
NM_006412.4(AGPAT2):c.453A>G (p.Thr151=) rs886063721 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_006412.4(AGPAT2):c.*102C>T rs144522710
NM_006412.4(AGPAT2):c.*230C>T rs190437134
NM_006412.4(AGPAT2):c.*277C>T rs1039011011
NM_006412.4(AGPAT2):c.*411C>T rs1564288835
NM_006412.4(AGPAT2):c.*79C>G rs112657922
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.-61G>C rs886063725
NM_006412.4(AGPAT2):c.199G>A (p.Val67Met) rs563539429
NM_006412.4(AGPAT2):c.234C>T (p.Phe78=) rs543374987
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.786C>T (p.Thr262=) rs151215253
NM_006412.4(AGPAT2):c.813G>T (p.Gly271=) rs759149037

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