ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 73
Download table as spreadsheet
HGVS dbSNP
NM_006412.4(AGPAT2):c.*102C>T
NM_006412.4(AGPAT2):c.*157C>T rs4880119
NM_006412.4(AGPAT2):c.*164C>A rs777619886
NM_006412.4(AGPAT2):c.*201G>C rs567964604
NM_006412.4(AGPAT2):c.*211G>A
NM_006412.4(AGPAT2):c.*217G>A rs886063720
NM_006412.4(AGPAT2):c.*230C>T rs190437134
NM_006412.4(AGPAT2):c.*232C>T
NM_006412.4(AGPAT2):c.*236C>T
NM_006412.4(AGPAT2):c.*239G>A rs56310643
NM_006412.4(AGPAT2):c.*277C>T
NM_006412.4(AGPAT2):c.*34C>G
NM_006412.4(AGPAT2):c.*354C>T rs886063719
NM_006412.4(AGPAT2):c.*382C>T
NM_006412.4(AGPAT2):c.*411C>T
NM_006412.4(AGPAT2):c.*418G>A rs886063718
NM_006412.4(AGPAT2):c.*442C>G rs6951
NM_006412.4(AGPAT2):c.*45C>A rs769602973
NM_006412.4(AGPAT2):c.*488C>T
NM_006412.4(AGPAT2):c.*48T>C
NM_006412.4(AGPAT2):c.*510C>T
NM_006412.4(AGPAT2):c.*512G>A rs555467686
NM_006412.4(AGPAT2):c.*514A>C rs886063717
NM_006412.4(AGPAT2):c.*517C>T rs10320
NM_006412.4(AGPAT2):c.*535C>T rs138670030
NM_006412.4(AGPAT2):c.*572C>T
NM_006412.4(AGPAT2):c.*79C>G rs112657922
NM_006412.4(AGPAT2):c.-18C>A
NM_006412.4(AGPAT2):c.-19T>C
NM_006412.4(AGPAT2):c.-4G>C rs886063724
NM_006412.4(AGPAT2):c.-61G>C rs886063725
NM_006412.4(AGPAT2):c.-62G>A rs566958496
NM_006412.4(AGPAT2):c.-67G>C rs146341067
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.189C>T (p.Ile63=) rs150180733
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.269G>A (p.Arg90His) rs142176861
NM_006412.4(AGPAT2):c.282C>T (p.Ile94=)
NM_006412.4(AGPAT2):c.315G>T (p.Met105Ile) rs746809573
NM_006412.4(AGPAT2):c.316+15G>A rs531012485
NM_006412.4(AGPAT2):c.317-7C>T rs74584184
NM_006412.4(AGPAT2):c.335C>T (p.Pro112Leu) rs886063722
NM_006412.4(AGPAT2):c.345C>T (p.Cys115=) rs73668354
NM_006412.4(AGPAT2):c.361C>G (p.Arg121Gly)
NM_006412.4(AGPAT2):c.397A>G (p.Met133Val)
NM_006412.4(AGPAT2):c.415T>G (p.Phe139Val)
NM_006412.4(AGPAT2):c.453A>G (p.Thr151=) rs886063721
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) rs142993240
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.493-7C>T
NM_006412.4(AGPAT2):c.54G>A (p.Val18=)
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.647A>T (p.Lys216Met)
NM_006412.4(AGPAT2):c.662-5C>G rs199964729
NM_006412.4(AGPAT2):c.702C>T (p.Ser234=) rs116951119
NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val) rs145975461
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.741C>T (p.Thr247=) rs117434864
NM_006412.4(AGPAT2):c.748C>T (p.Arg250Trp) rs767338891
NM_006412.4(AGPAT2):c.749G>A (p.Arg250Gln)
NM_006412.4(AGPAT2):c.762C>T (p.Thr254=) rs146973799
NM_006412.4(AGPAT2):c.783G>A (p.Lys261=) rs761143874
NM_006412.4(AGPAT2):c.786C>T (p.Thr262=)
NM_006412.4(AGPAT2):c.788C>T (p.Pro263Leu)
NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val) rs142417583
NM_006412.4(AGPAT2):c.813G>T (p.Gly271=)
NM_006412.4(AGPAT2):c.820G>A (p.Val274Met) rs368902934

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.