ClinVar Miner

List of variants studied for Berardinelli-Seip congenital lipodystrophy by Illumina Laboratory Services, Illumina

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 108
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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 0.23704
NM_001122955.4(BSCL2):c.486+11G>T rs72929434 0.16794
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_006412.4(AGPAT2):c.-67G>C rs146341067 0.06932
NM_001122955.4(BSCL2):c.765+15C>T rs79586077 0.03596
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 0.01307
NM_001122955.4(BSCL2):c.88-662C>A rs117597269 0.01291
NM_006412.4(AGPAT2):c.*239G>A rs56310643 0.01249
NM_006412.4(AGPAT2):c.702C>T (p.Ser234=) rs116951119 0.01094
NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val) rs142417583 0.00601
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 0.00307
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00296
NM_006412.4(AGPAT2):c.*510C>T rs149296700 0.00275
NM_006412.4(AGPAT2):c.182+8C>T rs199860398 0.00209
NM_006412.4(AGPAT2):c.*48T>C rs200614462 0.00199
NM_006412.4(AGPAT2):c.182+6G>A rs373540283 0.00175
NM_006412.4(AGPAT2):c.*512G>A rs555467686 0.00140
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00109
NM_006412.4(AGPAT2):c.647A>T (p.Lys216Met) rs143244920 0.00103
NM_001122955.4(BSCL2):c.88-674G>T rs549450153 0.00088
NM_006412.4(AGPAT2):c.*230C>T rs190437134 0.00084
NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys) rs201493373 0.00061
NM_006412.4(AGPAT2):c.269G>A (p.Arg90His) rs142176861 0.00061
NM_006412.4(AGPAT2):c.*232C>T rs573498539 0.00051
NM_006412.4(AGPAT2):c.589-2A>G rs116807569 0.00042
NM_006412.4(AGPAT2):c.762C>T (p.Thr254=) rs146973799 0.00033
NM_001122955.4(BSCL2):c.823G>A (p.Gly275Arg) rs151018278 0.00032
NM_006412.4(AGPAT2):c.732C>T (p.Leu244=) rs200288462 0.00031
NM_006412.4(AGPAT2):c.*488C>T rs541153485 0.00028
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 0.00022
NM_001122955.4(BSCL2):c.131G>A (p.Gly44Asp) rs769536524 0.00019
NM_001122955.4(BSCL2):c.615C>T (p.Ser205=) rs140208002 0.00019
NM_006412.4(AGPAT2):c.*164C>A rs777619886 0.00019
NM_006412.4(AGPAT2):c.189C>T (p.Ile63=) rs150180733 0.00019
NM_006412.4(AGPAT2):c.*514A>C rs886063717 0.00017
NM_001122955.4(BSCL2):c.861C>T (p.Leu287=) rs370926100 0.00016
NM_006412.4(AGPAT2):c.316+15G>A rs531012485 0.00016
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
NM_001122955.4(BSCL2):c.1234+7G>A rs200631909 0.00013
NM_001122955.4(BSCL2):c.448G>A (p.Val150Ile) rs149412531 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_001122955.4(BSCL2):c.588C>T (p.Cys196=) rs369806785 0.00011
NM_001122955.4(BSCL2):c.939C>T (p.Ile313=) rs200300686 0.00011
NM_001122955.4(BSCL2):c.*49T>G rs368144792 0.00010
NM_001122955.4(BSCL2):c.*58G>A rs755714656 0.00010
NM_001122955.4(BSCL2):c.745G>A (p.Ala249Thr) rs10776 0.00010
NM_006412.4(AGPAT2):c.*277C>T rs1039011011 0.00009
NM_006412.4(AGPAT2):c.54G>A (p.Val18=) rs140553479 0.00009
NM_001122955.4(BSCL2):c.1202G>A (p.Gly401Glu) rs767463971 0.00008
NM_006412.4(AGPAT2):c.315G>T (p.Met105Ile) rs746809573 0.00008
NM_006412.4(AGPAT2):c.483C>T (p.Val161=) rs370441324 0.00008
NM_001122955.4(BSCL2):c.88-634G>C rs575422877 0.00007
NM_006412.4(AGPAT2):c.720C>T (p.Asp240=) rs142207711 0.00007
NM_006412.4(AGPAT2):c.749G>A (p.Arg250Gln) rs368090654 0.00007
NM_006412.4(AGPAT2):c.476G>T (p.Arg159Leu) rs374919945 0.00006
NM_006412.4(AGPAT2):c.662-5C>G rs199964729 0.00006
NM_001122955.4(BSCL2):c.1201G>A (p.Gly401Arg) rs138964424 0.00005
NM_006412.4(AGPAT2):c.*354C>T rs886063719 0.00005
NM_001122955.4(BSCL2):c.1234+14T>G rs778380128 0.00004
NM_006412.4(AGPAT2):c.*201G>C rs567964604 0.00004
NM_006412.4(AGPAT2):c.*572C>T rs1037877364 0.00004
NM_001122955.4(BSCL2):c.184C>T (p.Leu62Phe) rs756907468 0.00003
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.788C>T (p.Pro263Leu) rs17848858 0.00003
NM_001122955.4(BSCL2):c.1200C>T (p.Ser400=) rs766492897 0.00002
NM_001122955.4(BSCL2):c.986G>A (p.Arg329Gln) rs771322168 0.00002
NM_006412.4(AGPAT2):c.*217G>A rs886063720 0.00002
NM_001122955.4(BSCL2):c.1054A>G (p.Ile352Val) rs775718358 0.00001
NM_001122955.4(BSCL2):c.991C>T (p.Arg331Cys) rs773431994 0.00001
NM_006412.4(AGPAT2):c.-19T>C rs754090246 0.00001
NM_006412.4(AGPAT2):c.-4G>C rs886063724 0.00001
NM_006412.4(AGPAT2):c.-68C>G rs886063726 0.00001
NM_006412.4(AGPAT2):c.397A>G (p.Met133Val) rs537737741 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_001122955.4(BSCL2):c.1167C>T (p.Ser389=) rs17850877
NM_001122955.4(BSCL2):c.544C>A (p.Pro182Thr) rs886048442
NM_001122955.4(BSCL2):c.745G>T (p.Ala249Ser) rs10776
NM_001122955.4(BSCL2):c.810C>T (p.Arg270=) rs998498207
NM_001122955.4(BSCL2):c.88-613G>A rs112877243
NM_001122955.4(BSCL2):c.88-620A>C rs886048443
NM_001122955.4(BSCL2):c.88-663G>A rs117862461
NM_006412.4(AGPAT2):c.*102C>T rs144522710
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.-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.361C>G (p.Arg121Gly) rs369878933
NM_006412.4(AGPAT2):c.786C>T (p.Thr262=) rs151215253
NM_006412.4(AGPAT2):c.813G>T (p.Gly271=) rs759149037

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